Adnan Menderes University Faculty of Medicine, Department of Paediatrics, Division of Paediatric Nephrology, Aydın, Turkey**
Adnan Menderes University Faculty of Medicine, Department of Internal Medicine, Aydın, Turkey
Objective: Studies investigating cumulative scientific data about a specific subject and assessing the scientific performance are named as bibliometric analysis. Familial Mediterranean Fever (FMF) is an autosomal recessive disease which is more prevalent among Turks, Jews, Armenians and Arabs. In this study, we aimed to analyse the most cited first 100 manuscripts in the field of FMF using bibliometric method.
Materials and Methods: This study was performed retrospectively by using “Thomson Reuters Web of Science” database in April 2016. The dataset was filtered to include the manuscripts only in the scope of “Science Citation Index Expanded (SCI-E)”. Furthermore, the first most cited 100 manuscripts were analyzed in terms of topic, journal, author, year and institution.
Results: The database search returned 2027 manuscripts and the most cited first 100 papers were included. The most cited paper focused on genetics of FMF. Among these most cited 100 manuscripts, the study by Livneh had the highest volume of total citations with 1198. These most cited manuscripts were published in 44 journals. When these publications were evaluated in terms of countries, Israel had the most cited manuscripts with 37%, Turkey and USA with 18%, and France with 12%.
Conclusion: This work provides the most influential references related to FMF and serves as a guide to what makes a publication citable. The genetics of FMF was the most widely studied topic and Israel, Turkey, USA and France were revealed as the arbiter countries of FMF topic.
Familial Mediterranean Fever (FMF) is the leading hereditary autoinflammatory disease, influencing more than 100.000 people worldwide (1). The disease is characterised by autosomal recessive pattern of inheritance and episodic, self-limited attacks of fever accompanied by polyserositis (2). Especially, populations living around the Mediterranean region, including Jews, Turks, Arabs and Armenians, are predominantly affected. Because of intercontinental travel in the last century, disease may be seen widespread (3). The mutations, on MEFV gene encoding pyrin protein, are thought to be the cause of FMF. The mutated pyrin interactions in the cell are thought to result in an increased caspase-1 activation and interleukin (IL)-1β processing, leading to an uncontrolled inflammatory state (2). The most important and severe complication, determining morbidity and mortality of FMF, is the development of amyloidosis. Colchicine is still the first-line treatment recommendation for preventing attacks and amyloidosis development (1). Publications are very important for scientific development and they provide a linkage between knowledge production, understanding and usage. Assessment of a publication about a specific subject is determination of the productivity which is an important marker of scientific development. Citation is the reference of a publication by another scientific article. Citations have been used for the assessment of a scientific publication at national, international, institutional and personal areas (4). The most influential publications are likely to be cited much more (5). Studies investigating cumulative scientific data about a specific subject and assessing scientific publication performance are named as bibliometric analysis. Bibliometric studies help researchers monitor the literature data closely, compare the scientific performance of institutions, identify important points of research focus and guide them to design new studies (6). FMF patients with similar genotype may express different phenotypes. Environmental variance is thought to be the contributing factor of this difference (1). In the light of these data, appropriate diagnosis methodology, treatment modalities or preventive approach for FMF may vary between countries. This bibliometric study will reveal the tendency of countries to FMF diagnosis, treatment and follow-up. In this study, we aimed to evaluate the 100 most cited and influential publications about FMF. To the best of our knowledge, this is the first study evaluating FMF by using bibliometric analysis methodology.
This study was performed retrospectively by using “Thomson Reuters Web of Science” database in April 2016. This database was known as one of the extensive source providing bibliographical data on medical disciplines (7). It has a wide scope of medical articles, internal consistency and variable filtering options. With the “Web of scienceTM Core Collection” selection and using the search term “FMF”, the dataset was composed. The dataset was filtered to include the manuscripts only in the scope of “Science Citation Index Expanded (SCI-E)”. The Thomson Reuters Web of Science search returned a total of 2027 publications. These publications were filtered by using “sort by” option as selecting “Times Cites -highest to lowest”. The first 100 most cited publications were included in the study. The obtained dataset was then analyzed in terms of topic, abstract, journal, author, country, year and institution. In multicenter studies; the first author’s name and institution was taken into account. The subjects of the most cited first 100 manuscripts were revised by reading their titles and abstracts, individually. Additionally, individual and five-year impact factor (both for the year 2016) for each journal publishing these manuscripts were recorded.
The database search returned 2027 manuscripts and the most cited first 100 papers were included. We did not filter our research by using the option “time-older to recent”. Also, we did not exclude self-citations. We have just focused on the most cited first 100 manuscript. The number of total citations ranged between 776 for Aksentijevich et al. (8) and 54 for Rabinovitch et al. (Table 1) (9). The oldest publication among these selected most influential manuscripts was by Zemer et al. (10) from Israel and published in 1986. When these publications were ranked according to the first authors; Livneh had 7 manuscripts, Gershoni-Baruch had 4 manuscripts and Ben-Cherit, Tunca, Chae, Toutiou, Booth and Ozen each had 3 manuscripts (Table 1). All the remaining authors had only one publication. Additionally, Livneh had the highest volume of total citations with 1198. This was followed by Ben-Chetrit with 534 citations, Tunca with 464 citations, Toutiou with 413 citations, Chae with 406 citations, Gershoni-Baruch with 317 citations, Booth with 255 citations, and Ozen with 209 citations (Table 1). When these authors who had the highest number of publications were assessed according to their countries; 3 authors were from Israel, 2 were from Turkey and the remaining authors were from the United States, France and United Kingdom. These most cited manuscripts were published in 44 journals. Seven journals among these most cited journals had an impact factor above 10 with a 4.017 median. “New England Journal of Medicine” had the highest impact factor (45.941) and “Cell” (28.779) and “Nature Genetics” (24.416) were the following high-impact journals (Table 2). When these journals were evaluated according to the number of total citations; “Arthritis and Rheumatism” had the most citations (1337) and “European Journal of Human Genetics” (1039) and “Cell” (776) were the following journals. We could not reach the 5-year impact factors of 6 journals from ISI Web of Knowledge database. “Arthritis and Rheumatism”, “European Journal of Human Genetics” and “Seminars in Arthritis and Rheumatism” were sharing the first place according to the number of publications per journal with nine manuscripts for each. “Journal of Rheumatology” was following with 8 manuscripts and “Lancet” and “American Journal of Medical Genetics” were sharing the third line with four manuscripts per each journal (Table 2). The evaluation of the 100 most-cited articles for the institutes is shown in Table 3. “Tel Aviv University” was the first institute with 16 publications; “Hacettepe University” was the second institute with 10 publications and “Hopital Arnaud de Villeneuve, Biochemical Genetics Laboratory” was the third institute with 8 publications. Also, “Tel Aviv University” was again the first in terms of institute citation numbers with 1937 citations. “NIAMSD, Arthritis and Rheumatism Branch, Bethesda” (n=1859) and Hospital Arnaud de Villeneuve, Biochemical Genetics Laboratory (n=1560) were the following institutes. When citation numbers per manuscripts were assessed, “NIAMSD, Arthritis and Rheumatism Branch, Bethesda” was the leading institute (n=309.8) and “Hopital Arnaud de Villeneuve, Biochemical Genetics Laboratory” (n=195) and “Hadassah University” (n=138) were the following institutes (Table 3). Except two of them (by Chae and Tunca), the most cited 10 manuscripts were older than ten years (Table 4). A limitation of the bibliometric analysis studies is that the older manuscripts may accrue much more citations. To avoid this bias in our study, the total citation numbers were evaluated per years. The study entitled “Ancient missense mutations in a new member of the RoRet gene family are likely to cause FMF” by Aksentijevich et al. (8) from the United States was again the first in terms of this assessment. Additionally, United States, Israel and France each had three, Turkey had only one publication among the first ten most cited manuscripts. Furthermore, five of these 10 most cited manuscripts were about genetics of FMF (Table 4). When these publications were evaluated in terms of countries; Israel had the most cited manuscripts with 37%, Turkey and United States with 18%, France with 12%, United Kingdom with 5%, Italy and Kuwait with 2%, and other countries with 6% (Figure 1). The genetics of FMF was the most widely studied topic (23/100).
There were only four multicenter studies. These studies according to their first author and title were as follows; Aksentijevich et al. (8) “Ancient missense mutations in a new member of the RoRet gene family are likely to cause FMF”, Bernot et al. (12) “A candidate gene for FMF”, Tunca et al. (14) “FMF in Turkey: results of a nationwide multicenter study” (14), and Touitou et al. (33) “International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever, Country as the primary risk factor for renal amyloidosis in FMF”. Two of these manuscripts were published in 1997 and the others were published in 2005 and 2007. One of these manuscripts was about genotype-fenotype correlation; the other was a clinical study. The rest of them were about the genetics of FMF. Additionally, abstracts of 13 studies were not available in Web of Science, thus, these manuscripts could not be stratified (Figure 2).
The present bibliometric study was conducted to evaluate the most cited first 100 manuscripts in the field of FMF. The most frequent topic covered in these most influential manuscripts was the genetics of FMF, studied well with 23 publications. Israel, Turkey, United States and France were the leading countries contributing to the literature about the genetics of FMF. Although, United States is located outside the Mediterranean region, well studies have been published from these countries. Today, it is known that, FMF may be seen worldwide because of intercontinental travel (3). Intercontinental travel may be the reason of precious manuscripts published from the United States. Furthermore, the amount of financial resources allocated for studies about the genetics of FMF in these countries, seems to be the other contributing factor. The diagnosis of FMF is based on clinical findings such as recurrent fever accompanied by polyserositis (21). Genetic confirmation supports the clinical diagnosis. Homozygote M694V mutation is supposed to be an important risk factor for the development of amyloidosis (3,11,44). The results of our study indicate that FMF genetics has been studied more than clinical trials. Although clinical findings are enough for the diagnosis, the genetics of FMF seems to be much more interesting for researchers. There are only a few multicenter studies among these most cited first 100 manuscripts (8,12,14,33). Multicenter studies, which will be conducted between all Mediterranean countries, may have more scientific value and should be encouraged. The first circumstance of worldwide scientific development is to publish manuscripts which will have numerous citations (6). The share for scientific studies allocated from the budgets of economically strong countries is much more than the other countries. This makes the manuscripts of these countries to be published in respectable journals and cited more. By this way, economically developed countries are also taking place at the top of the scientifically developed countries (106). In our study, we evaluated the contributing countries in terms of World Bank data. While Israel, United States and France were taking place in high income (>12.736 $) countries, Turkey was in upper-middle income (4126-12.736 $) status (107). Impact factor consisting of the citations of the manuscripts by the scientific community and influential manuscripts tend to receive more citations. Hence, the high-impact journals are believed to be higher quality and publish more influential manuscripts. In this study, journals with higher impact factors were (New England Journal of Medicine, Cell, Nature Genetics, Lancet, Annals of Internal Medicine) consisting only the 11% of all publications in the first 100 manuscripts. Additionally, the median impact factor was 4.017 and 53% of all manuscripts were published in journals with an impact factor under 5. The status of the manuscripts although published in low-impact journals but received many citations, tells us that the journal should not be evaluated only by its impact factor; the citation numbers should be considered also. When these 100 most cited manuscripts were ranked according to their first authors; Livneh was the first and Gershoni-Baruch, Tunca, Ben-Cherit, Ozen, Touitou, and Boot were the following most contributing authors. This author rank is strikingly correlated with the prevalence of FMF in those countries. Livneh and Gershoni-Baruch were from Israel and Ozen and Tunca were from Turkey. Accordingly, the prevalence of the disease in non-Ashkenazi Jews was between 1/256 and 1/500, and was 1/1073 in the Turkish population (3,11,24). Consequently, much more manuscripts have been published from the countries where FMF was more prevalent. Tel Aviv University, Hacettepe University, Hopital Arnaud de Villeneuve, Biochemical Genetics Laboratory, NIAMSD and Arthritis and Rheumatism Branch, Bethesda were the institutions with the greatest number of publications in the top 100. We already know that the manuscript number is positively correlated with the disease prevalence. Besides this, we also know that developed countries with well equipped laboratories may be arbiter, especially about the genetic disorders. The main limitation of this type of bibliometric studies is different kind of defaults affecting the statistical results. Disproportionate citations which may arise from institutional bias, self citation, language bias or personal bias are some of those defaults. Additionally, we observed that older publications may receive more citations. To control this citation bias, the number of citations per year was calculated. This citation rate was used to rank the first 10 authors. Furthermore, we used only “Thomson Reuters Web of Science” database in our study. Although it has a wide scope of medical articles, it would be better to use more than one database. Additionally, we assume that evaluation of multicenter studies according to their first authors, is insufficient.
This work provides the most influential manuscripts related to FMF and serves as a guide to what makes a paper citable. “The genetics of FMF” was the most widely studied topic and Israel, Turkey, United States and France were revealed as the arbiter countries of FMF topic. In this study, we tried to attract attention to the less studied topics about FMF. Additionally, we revealed that older publications can receive more citations. Besides this, we also revealed that, developed countries with well equipped laboratories have arbiter publications about the genetics of FMF although the disease is not prevalent in their countries.
Ethics Committee Approval: Retrospective study.
Informed Consent: Retrospective study.
Peer review: Externally and internally peer-reviewed.
Surgical and Medical Practices: D.Y., H.B.U., Concept: D.Y., H.B.U., Design: D.Y., H.B.U., Data Collection or Processing: D.Y., H.B.U., Analysis or Interpretation: D.Y., H.B.U., Literature Search: D.Y., H.B.U., Writing: D.Y., H.B.U.
Conflict of Interest: No conflict of interest was declared by the authors.
Financial Disclosure: The authors declared that this study received no financial support.
1. Onen F. Familial Mediterranean fever. Rheumatol Int 2006; 26: 489-96.
2. Sönmez HE, Batu ED, Özen S. Familial Mediterranean fever: current perspectives. J Inflamm Res 2016; 17: 13-20.
3. Bakkaloglu A. Familial Mediterranean fever. Pediatr Nephrol 2003; 18: 853-9.
4. Wiysonge CS, Uthman OA, Ndumbe PM, Hussey GD. A bibliometric analysis of childhood immunization research productivity in Africa since the onset of the Expanded Program on Immunization in 1974. BMC Med 2013; 14: 11-66.
5. Powell AG, Hughes DL, Wheat JR, Lewis WG. The 100 most influential manuscripts in gastric cancer: A bibliometric analysis. Int J Surg 2016; 28: 83-90.
6. Yılmaz S, Bakış M. A Bibliometric Analysis of Scientific Publications from Turkey and the World in the Field of Anesthesiology. Turkiye Klinikleri J Anest Reanim 2014; 12: 143-7.
7. Kulkarni AV, Aziz B, Shams I, Busse JW. Comparisons of citations in Web of Science, Scopus, and Google Scholar for articles published in general medical journals. JAMA 2009; 302: 1092-6.
8. Aksentijevich I, Centola M, Deng ZM, Sood R, Balow JE, Wood G, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell 1997; 90: 797-807.
9. Rabinovitch O, Zemer D, Kukia E, Sohar E, Mashiach S. Colchicine treatment in conception and pregnancy: two hundred thirty-one pregnancies in patients with familial Mediterranean fever. Am J Reprod Immunol 1992; 28: 245-6.
10. Zemer D, Pras M, Sohar E, Modan M, Cabili S, Gafni J. Colchicine in the prevention and treatment of the amyloidosis of familial Mediterranean fever. N Engl J Med 1986; 314: 1001-5.
11. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997; 40: 1879-85.
12. Bernot A, Clepet C, Dasilva C, Devaud C, Petit JL, Caloustian C, et al. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet 1997; 17: 25-31.
13. Ben-Chetrit E, Levy M. Familial Mediterranean fever. Lancet 1998; 351: 659-64.
14. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005; 84: 1-11.
15. Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ, et al. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1 beta production. Proc Natl Acad Sci USA 2006; 103: 9982-7.
16. Mege JL, Dilsen N, Sanguedolce V, Gul A, Bongrand P, Roux H, et al. Overproduction of monocyte derived tumor necrosis factor alpha, interleukin (IL) 6, IL-8 and increased neutrophil superoxide generation in Behçet's disease. A comparative study with familial Mediterranean fever and healthy subjects. J Rheumatol 1993; 20: 1544-9.
17. Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, et al. The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 2000; 95: 3223-31.
18. Touitou I. The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 2001; 9: 473-83.
19. Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, et al. Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health. Medicine (Baltimore) 1998; 77: 268-97.
20. Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA 2003; 100: 13501-6.
21. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999; 64: 949-62.
22. Pras E, Aksentijevich I, Gruberg L, Balow JE Jr, Prosen L, Dean M, et al. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med 1992; 326: 1509-13.
23. Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nedelec B, Reinert P, et al. MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. Am J Hum Genet 1999; 65: 88-97.
24. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, et al. Mutation frequency of Familial Mediterranean Fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001; 9: 553-5.
25. Bernot A, da Silva C, Petit JL, Cruaud C, Caloustian C, Castet V, et al. Non-founder mutations in the MEFV gene establish this gene as the cause of familial Mediterranean fever (FMF). Hum Mol Genet 1998; 7: 1317-25.
26. Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, et al. The SPRY domain of Pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits pro IL-1 beta processing. Cell Death Differ 2007; 14: 1457-66.
27. Lachmann HJ, Sengül B, Yavuzşen TU, Booth DR, Booth SE, Bybee A, et al. Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford) 2006; 45: 746-50.
28. Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999; 7: 287-92.
29. Dewalle M, Domingo C, Rozenbaum M, Ben-Chetrit E, Cattan D, Bernot A, et al. Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 1998; 6: 95-7.
30. Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 1999; 6: 1-6.
31. Zemer D, Livneh A, Danon YL, Pras M, Sohar E. Long-term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum 1991; 34: 973-7.
32. Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000; 67: 1136-43.
33. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al; International Study Group for Phenotype-Genotype Correlation in Familial Mediterranean Fever. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007; 56: 1706-12.
34. Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 1982; 150: 22-6.
35. Tunca M, Kirkali G, Soytürk M, Akar S, Pepys MB, Hawkins PN. Acute phase response and evolution of familial Mediterranean fever. Lancet 1999; 353: 1415.
36. Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998; 75: 216-9.
37. Ozdogan H, Arisoy N, Kasapçapur O, Sever L, Calişkan S, Tuzuner N, et al. Vasculitis in familial Mediterranean fever. J Rheumatol 1997; 24: 323-7.
38. Livneh A, Langevitz P, Zemer D, Padeh S, Migdal A, Sohar E, et al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum 1996; 26: 612-27.
39. Barakat MH, Karnik AM, Majeed HW, el-Sobki NI, Fenech FF. Familial Mediterranean fever (recurrent hereditary polyserositis) in Arabs--a study of 175 patients and review of the literature. Q J Med 1986; 60: 837-47.
40. Yalçinkaya F, Cakar N, Misirlioğlu M, Tümer N, Akar N, Tekin M, et al. Genotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology (Oxford) 2000; 39: 67-72.
41. Rogers DB, Shohat M, Petersen GM, Bickal J, Congleton J, Schwabe AD, et al. Familial Mediterranean fever in Armenians: autosomal recessive inheritance with high gene frequency. Am J Med Genet 1989; 34: 168-72.
42. Dowds TA, Masumoto J, Chen FF, Ogura Y, Inohara N, Nunez G. Regulation of cryopyrin/Pypaf1 signaling by pyrin, the familial Mediterranean fever gene product. Biochem Biophys Res Commun 2003; 302: 575-80.
43. Stoffman N, Magal N, Shohat T, Lotan R, Koman S, Oron A, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 2000; 8: 307-10.
44. Saatçi U, Ozen S, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, et al. Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 1997; 156: 619-23.
45. Booth DR, Gillmore JD, Lachmann HJ, Booth SE, Bybee A, Soytürk M, et al. The genetic basis of autosomal dominant familial Mediterranean fever. QJM 2000; 93: 217-21.
46. Mansfield E, Chae JJ, Komarow HD, Brotz TM, Frucht DM, Aksentijevich I, et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood 2001; 98: 851-9.
47. Ben-Chetrit E, Levy M. Colchicine prophylaxis in familial Mediterranean fever: reappraisal after 15 years. Semin Arthritis Rheum 1991; 20: 241-6.
48. Lidar M, Livneh A. Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 2007; 65: 318-24.
49. Livneh A, Langevitz P. Diagnostic and treatment concerns in familial Mediterranean fever. Baillieres Best Pract Res Clin Rheumatol 2000; 14: 477-98.
50. Gershoni-Baruch R, Shinawi M, Leah K, Badarnah K, Brik R. Familial Mediterranean fever: prevalence, penetrance and genetic drift. Eur J Hum Genet 2001; 9: 634-7.
51. Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 2003; 48: 1149-55.
52. Korkmaz C, Ozdogan H, Kasapçopur O, Yazici H. Acute phase response in familial Mediterranean fever. Ann Rheum Dis 2002; 61: 79-81.
53. Matzner Y, Brzezinski A. C5a-inhibitor deficiency in peritoneal fluids from patients with familial Mediterranean fever. N Engl J Med 1984; 311: 287-90.
54. Shinar Y, Livneh A, Langevitz P, Zaks N, Aksentijevich I, Koziol DE, et al. Genotype-phenotype assessment of common genotypes among patients with familial Mediterranean fever. J Rheumatol 2000; 27: 1703-7.
55. Chae JJ, Aksentijevich I, Kastner DL. Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy. Br J Haematol 2009; 146: 467-78.
56. Livneh A, Zemer D, Langevitz P, Laor A, Sohar E, Pras M. Colchicine treatment of AA amyloidosis of familial Mediterranean fever. An analysis of factors affecting outcome. Arthritis Rheum 1994; 37: 1804-11.
57. Booth DR, Gillmore JD, Booth SE, Pepys MB, Hawkins PN. Pyrin/marenostrin mutations in familial Mediterranean fever. QJM 1998; 91: 603-6.
58. Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, et al. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 1998; 25: 2445-9.
59. Gang N, Drenth JP, Langevitz P, Zemer D, Brezniak N, Pras M, et al. Activation of the cytokine network in familial Mediterranean fever. J Rheumatol 1999; 26: 890-7.
60. Meyerhoff J. Familial Mediterranean fever: report of a large family, review of the literature, and discussion of the frequency of amyloidosis. Medicine (Baltimore) 1980; 59: 66-77.
61. Samuels J, Ozen S. Familial Mediterranean fever and the other autoinflammatory syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 2006; 18: 108-17.
62. Langevitz P, Zemer D, Livneh A, Shemer J, Pras M. Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 1994; 21: 1708-9.
63. Pras M. Familial Mediterranean fever: from the clinical syndrome to the cloning of the pyrin gene. Scand J Rheumatol 1998; 27: 92-7.
64. Daniels M, Shohat T, Brenner-Ullman A, Shohat M. Familial Mediterranean fever: high gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. Am J Med Genet 1995; 55: 311-4.
65. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 2009; 60: 1851-61.
66. Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, Schaefer C, et al. Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 2007; 119: e474-83.
67. Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, et al. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum 2004; 33: 273-82.
68. Gershoni-Baruch R, Broza Y, Brik R. Prevalence and significance of mutations in the familial Mediterranean fever gene in Henoch-Schönlein purpura. J Pediatr. 2003; 143: 658-61.
69. Booth DR, Lachmann HJ, Gillmore JD, Booth SE, Hawkins PN. Prevalence and significance of the familial Mediterranean fever gene mutation encoding pyrin Q148. QJM 2001; 94: 527-31.
70. Ben-Chetrit E, Touitou I. Familial mediterranean Fever in the world. Arthritis Rheum. 2009; 61: 1447-53.
71. Meinzer U, Quartier P, Alexandra JF, Hentgen V, Retornaz F, Kone-Paut I. Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature. Semin Arthritis Rheum 2011; 41: 265-71.
72. Calligaris L, Marchetti F, Tommasini A, Ventura A. The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. Eur J Pediatr 2008; 16: 695-6.
73. El-Shanti H, Majeed HA, El-Khateeb M. Familial mediterranean fever in Arabs. Lancet 2006; 367: 1016-24.
74. Dode C, Pecheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, Delpech M, Amselem S, Grateau G. Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever. Am J Med Genet 2000; 92: 241-6.
75. Eisenberg S, Aksentijevich I, Deng Z, Kastner DL, Matzner Y. Diagnosis of familial Mediterranean fever by a molecular genetics method. Ann Intern Med 1998; 129: 539-42.
76. Chae JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood 2008; 112: 1794-803.
77. Schwartz T, Langevitz P, Zemer D, Gazit E, Pras M, Livneh A. Behçet's disease in Familial Mediterranean fever: characterization of the association between the two diseases. Semin Arthritis Rheum 2000; 29: 286-95.
78. Livneh A, Zemer D, Siegal B, Laor A, Sohar E, Pras M. Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever. Nephron 1992; 60: 418-22.
79. Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, et al. Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum 2009; 60: 1862-6.
80. Ozen S, Bakkaloglu A, Yilmaz E, Duzova A, Balci B, Topaloglu R, et al. Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation? J Rheumatol 2003; 30: 2014-8.
81. Roldan R, Ruiz AM, Miranda MD, Collantes E. Anakinra: new therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine. Joint Bone Spine 2008; 75: 504-5.
82. Flatau E, Kohn D, Schiller D, Lurie M, Levy E. Schönlein-Henoch syndrome in patients with familial Mediterranean fever. Arthritis Rheum 1982; 25: 42-7.
83. Gershoni-Baruch R, Brik R, Shinawi M, Livneh A. The differential contribution of MEFV mutant alleles to the clinical profile of familial Mediterranean fever. Eur J Hum Genet 2002; 10: 145-9.
84. Livneh A, Aksentijevich I, Langevitz P, Torosyan Y, G-Shoham N, Shinar Y, et al. A single mutated MEFV allele in Israeli patients suffering from familial Mediterranean fever and Behçet's disease (FMF-BD). Eur J Hum Genet 2001; 9: 191-6.
85. Yalçinkaya F, Ozen S, Ozçakar ZB, Aktay N, Cakar N, Düzova A, et al. A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 2009; 48: 395-8.
86. Schattner A, Lachmi M, Livneh A, Pras M, Hahn T. Tumor necrosis factor in familial Mediterranean fever. Am J Med 1991; 90: 434-8.
87. Duzova A, Bakkaloglu A, Besbas N, Topaloglu R, Ozen S, Ozaltin F, et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol 2003; 21: 509-14.
88. Kiraz S, Ertenli I, Arici M, Calgüneri M, Haznedaroglu I, Celik I, et al. Effects of colchicine on inflammatory cytokines and selectins in familial Mediterranean fever. Clin Exp Rheumatol 1998; 16: 721-4.
89. Holdcroft A, Smith M, Jacklin A, Hodgson H, Smith B, Newton M, et al. Pain relief with oral cannabinoids in familial Mediterranean fever. Anaesthesia 1997; 52: 483-6.
90. Aisen PS, Haines KA, Given W, Abramson SB, Pras M, Serhan C, et al. Circulating hydroxy fatty acids in familial Mediterranean fever. Proc Natl Acad Sci U S A. 1985; 82: 1232-6.
91. Belkhir R, Moulonguet-Doleris L, Hachulla E, Prinseau J, Baglin A, Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med 2007; 146: 825-6.
92. Ozen S, Ben-Chetrit E, Bakkaloglu A, Gur H, Tinaztepe K, Calguneri M, et al. Polyarteritis nodosa in patients with Familial Mediterranean Fever (FMF): a concomitant disease or a feature of FMF? Semin Arthritis Rheum 2001; 30: 281-7.
93. Tunca M, Tankurt E, Akbaylar Akpinar H, Akar S, Hizli N, Gönen O. The efficacy of interferon alpha on colchicine-resistant familial Mediterranean fever attacks: a pilot study. Br J Rheumatol 1997; 36: 1005-8.
94. Garcia-Gonzalez A, Weisman MH. The arthritis of familial Mediterranean fever. Semin Arthritis Rheum 1992; 22: 139-50.
95. La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C, et al. Familial Mediterranean fever is no longer a rare disease in Italy. Eur J Hum Genet 2003; 11: 50-6.
96. Touitou I, Picot MC, Domingo C, Notarnicola C, Cattan D, Demaille J, et al. The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis Rheum 2001; 44: 163-9.
97. Barakat MH, El-Khawad AO, Gumaa KA, El-Sobki NI, Fenech FF. Metaraminol provocative test: a specific diagnostic test for familial Mediterranean fever. Lancet. 1984; 1: 656-7.
98. Moser C, Pohl G, Haslinger I, Knapp S, Rowczenio D, Russel T, et al. Successful treatment of familial Mediterranean fever with Anakinra and outcome after renal transplantation. Nephrol Dial Transplant 2009; 24: 676-8.
99. Mor A, Shinar Y, Zaks N, Langevitz P, Chetrit A, Shtrasburg S, et al. Evaluation of disease severity in familial Mediterranean fever. Semin Arthritis Rheum 2005; 35: 57-64.
100. Brik R, Shinawi M, Kepten I, Berant M, Gershoni-Baruch R. Familial Mediterranean fever: clinical and genetic characterization in a mixed pediatric population of Jewish and Arab patients. Pediatrics 1999; 103: e70.
101. Topaloglu R, Ozaltin F, Yilmaz E, Ozen S, Balci B, Besbas N, et al. E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 2005; 64: 750-2.
102. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with Familial Mediterranean fever. J Rheumatol 2003; 30: 185-90.
103. Langevitz P, Livneh A, Zemer D, Shemer J, Pras M. Seronegative spondyloarthropathy in familial Mediterranean fever. Semin Arthritis Rheum 1997; 27: 67-72.
104. Baykal Y, Saglam K, Yilmaz MI, Taslipinar A, Akinci SB, Inal A. Serum sIL-2r, IL-6, IL-10 and TNF-alpha level in familial Mediterranean fever patients. Clin Rheumatol 2003; 22: 99-101.
105. Majeed HA, Rawashdeh M, el-Shanti H, Qubain H, Khuri-Bulos N, Shahin HM. Familial Mediterranean fever in children: the expanded clinical profile. QJM. 1999; 92: 309-18.
106. Bakış M, Yılmaz S. Publications in the last 10 years in the world and Turkey’s contribution to the intensive care areas. Turkiye Klinikleri J Anest Reanim 2016; 14: 45-50.