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    4035 results match your criteria Mediterranean Fever Familial

    1 OF 81

    The safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade: an international survey.
    Pediatr Rheumatol Online J 2018 Mar 21;16(1):19. Epub 2018 Mar 21.
    Department of General Pediatrics, University Medical Center Utrecht, Room KE 04 133 1, PO-Box 85090, 3508, AB Utrecht, The Netherlands.
    Background: Withholding live-attenuated vaccines in patients using interleukin (IL)-1 or IL-6 blocking agents is recommended by guidelines for both pediatric and adult rheumatic diseases, since there is a risk of infection in an immune suppressed host. However, this has never been studied. This retrospective, multicenter survey aimed to evaluate the safety of live-attenuated vaccines in patients using IL-1 or IL-6 blockade. Read More

    A rare cause of fever in an adult: a case of familial Mediterranean fever.
    Int Med Case Rep J 2018 13;11:37-40. Epub 2018 Mar 13.
    Department of Emergency Medicine, Faculty of Medicine, Namik Kemal University, Tekirdag, Turkey.
    Background: Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent fever attacks and serositis. Nonspecific manifestations of the FMF can mimic many common acquired disorders such as infections and acute abdomen. This can delay recognition for many years and lead to comprehensive assessments and even unnecessary surgeries. Read More

    Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.
    Genet Med 2018 Mar 15. Epub 2018 Mar 15.
    Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.
    PurposeThis work aimed at investigating demographic, clinical, and genetic characteristics of individuals experiencing their first familial Mediterranean fever (FMF) attack at age ≥40 years in a very large cohort of Armenian FMF patients.MethodsIn total, 10,370 Armenian patients diagnosed with FMF based on the Tel Hashomer criteria and carrying at least one MEFV mutant allele were included in this study.ResultsA total of 354 (3. Read More

    Chemotherapy-Colchicine Interaction in a Child with Familial Mediterranean Fever and Hodgkin Lymphoma.
    Mediterr J Hematol Infect Dis 2018 1;10(1):e2018019. Epub 2018 Mar 1.
    Division of Hematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
    Familial Mediterranean fever (FMF) has been associated with hematological malignancies but has not been reported in association with Hodgkin lymphoma (HL). We hereby describe the first pediatric patient with FMF and stage IIA nodular sclerosis HL. She was treated with prednisone, doxorubicin, vincristine and etoposide (OEPA) being on therapy with colchicine. Read More

    Immunological Evaluation in Patients with Familial Mediterranean fever.
    Open Access Maced J Med Sci 2018 Feb 9;6(2):310-313. Epub 2018 Feb 9.
    National Research Centre - Immunogenetics Department, Cairo, Egypt.
    Objective: This study aimed to investigate T & B lymphocyte subsets and Natural Killer (NK) cells patterns in children with FMF versus normal control subjects, to estimate the immunoglobulins IgG, IgM, and IgA levels, and to scrutinize the possible use of Neutrophil / Lymphocyte ratio (NLR) as a marker for subclinical inflammation in FMF patients.

    Patients And Methods: A group of 42 patients with FMF attending the Genetics Clinic at National Research Centre were included in this study. They were 13 males and 19 females; their age ranged from 2 to 17 years old. Read More

    Five Cases of Familial Mediterranean Fever in Japan: The Relationship with MEFV Mutations.
    Intern Med 2018 Mar 9. Epub 2018 Mar 9.
    Department of General Internal Medicine, Hiroshima University Hospital, Japan.
    Familial Mediterranean fever (FMF) is the most common genetic autoinflammatory disease, but it has been considered a rare disease in Japan. We herein describe five patients with FMF who were diagnosed both clinically and genetically at a single Japanese institute. A genetic investigation of MEFV detected heterozygosity for the compound mutations L110P/E148Q (n=2) and L110P/148Q/P369S/R406Q (n=1), and heterozygosity for M694I (n=1) and S503C (n=1). Read More

    [Familial Mediterranean fever].
    Rev Med Interne 2018 Mar 8. Epub 2018 Mar 8.
    Service de médecine interne, centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, 4, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, hôpital Trousseau, 26, avenue du Dr-Arnold-Netter, 75012 Paris, France; Université Paris 6, Pierre-et-Marie-Curie (UPMC), Assistance publique-Hôpitaux de Paris (AP-HP), Paris, France. Electronic address:
    Familial Mediterranean Fever (FMF) is the most frequent monogenic auto-inflammatory disease. FMF is an autosomal recessive disease, which affects populations from Mediterranean origin and is associated with MEFV gene mutations encoding for the protein pyrin. Pyrin activation enhances the secretion of interleukin 1 by myelo-monocytic cells. Read More

    Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis.
    J Periodontol 2018 Feb 21. Epub 2018 Feb 21.
    Department of Biostatistics and Medical Informatics, Faculty of Medicine, University of Süleyman Demirel.
    Background: There are no published studies regarding the role of the plasminogen (PLG) system in familial Mediterranean fever (FMF), FMF-associated secondary amyloidosis, or chronic periodontitis (CP), although recent limited data have focused on the association between FMF and chronic periodontitis. Therefore, the aim of this study was to evaluate the serum, salivary, and gingival tissue levels of PLG in patients with CP, FMF, and amyloidosis.

    Methods: The study population included 122 patients with FMF (only FMF, and FMF and amyloidosis and 128 individuals who were systemically healthy controls. Read More

    Familial Mediterranean fever mimicking Crohn disease: A case report.
    Medicine (Baltimore) 2018 Jan;97(1):e9547
    Division of Gastroenterology, Department of Internal Medicine, School of Medicine, Iwate Medical University.
    Rationale: Familial Mediterranean fever (FMF) is the most common form of autoinflammatory disease. We report a rare case of FMF with gastrointestinal lesions mimicking Crohn disease.

    Patient Concerns: A 21-year-old Japanese man was referred to our institution, complaining of refractory diarrhea and weight loss of 14 kg during the past two years. Read More

    [Clinical overview of auto-inflammatory diseases].
    Rev Med Interne 2018 Feb 28. Epub 2018 Feb 28.
    Service de médecine interne, université Paris 6, Pierre-et-Marie-Curie (UPMC), hôpital Tenon, Assistance publique-Hôpitaux de Paris (AP-HP), 20, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, université Pierre-et-Marie-Curie (UPMC)-Paris 6, hôpital Trousseau, Assistance publique-Hôpitaux de Paris, 75012 Paris, France; Centre de référence des maladies auto-inflammatoires et de l'amylose inflammatoire (CEREMAIA), 75020 Paris, France.
    Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. Read More

    A novel single variant in the MEFV gene causing Mediterranean fever and Behçet's disease: a case report.
    J Med Case Rep 2018 Mar 1;12(1):53. Epub 2018 Mar 1.
    Human Genomic Centre, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.
    Background: Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene. Read More

    Polyarteritis nodosa revisited: a review of historical approaches, subphenotypes and a research agenda.
    Clin Exp Rheumatol 2018 Feb 20. Epub 2018 Feb 20.
    Department of Medicine, University of Cambridge, UK.
    Polyarteritis nodosa (PAN) is a rare form of primary systemic vasculitis with heterogeneous presentations, treatments and disease course. Historical approaches to classification and diagnostic terminology are reviewed. Since differentiation of PAN from microscopic polyangiitis (MPA) and other ANCA vasculitides by the Chapel Hill conference statements, and with hepatitis associated PAN defined as a secondary vasculitis, the phenotyping and subclassification of PAN has received little attention. Read More

    Boundaries between familial Mediterranean fever and juvenile spondyloarthritis: Analysis of three French retrospective cohorts.
    Joint Bone Spine 2018 Feb 13. Epub 2018 Feb 13.
    Pediatric rheumatology, CHU de Bicêtre, AP-HP, 78, rue Gal-Leclerc, 94275 Le Kremlin-Bicêtre, France; CeRéMAIA, French reference center for auto-inflammatory diseases and inflammatory amyloidosis, 94270, Le Kremlin Bicêtre, France.
    Objectives: Children with Familial Mediterranean fever may suffer from musculoskeletal involvement, somewhat difficult to distinguish from juvenile spondyloarthritis. The association of these two diseases has been scarcely reported in children. Objective of this work was to define the association of familial Mediterranean fever and juvenile spondyloarthritis in France. Read More

    Canakinumab treatment in children with familial Mediterranean fever: report from a single center.
    Rheumatol Int 2018 Feb 15. Epub 2018 Feb 15.
    Pediatric Nephrology and Rheumatology Department, Ankara Dr. Sami Ulus Maternity and Children Hospital, Babur Caddesi No. 44, Altındağ, Ankara, Turkey.
    Familial Mediterranean fever (FMF), the most common hereditary autoinflammatory disorder is characterized by recurrent episodes of fever, serositis, arthritis. The major long-term result is amyloidosis. Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. Read More

    Canakinumab treatment in renal transplant recipients with familial Mediterranean fever.
    J Nephrol 2018 Feb 14. Epub 2018 Feb 14.
    Nephrology Department, Hacettepe University Medical Faculty, Sihhiye, Ankara, Turkey.
    Colchicine is the first-line treatment for familial Mediterranean fever (FMF), preventing both inflammatory attacks as well as the development of amyloidosis in the majority of the patients. However approximately 5-10% of patients are colchicine resistant/intolerant. Side effects of colchicine are more prominent in renal transplant recipients due to interaction with immunosuppressive drugs. Read More

    Evaluation of the effects of miRNAs in familial Mediterranean fever.
    Clin Rheumatol 2018 Feb 13. Epub 2018 Feb 13.
    Faculty of Medicine, Department of Medical Genetic, Ege University, Izmir, Turkey.
    Familial Mediterranean fever (FMF) is an inherited autoinflammatory disorder that can result in attacks with accompanying recurrent episodes of fever, serositis, and skin rash. MiRNAs are demonstrated to be associated with a number of other diseases; however, no comprehensive study has revealed its association with FMF disease. The aim is to investigate the role of microRNAs in FMF. Read More

    Colchicine in dermatology: A review.
    Australas J Dermatol 2018 Feb 12. Epub 2018 Feb 12.
    Department of Dermatology, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
    Colchicine is an anti-inflammatory agent that has been used for decades for the treatment of various diseases including gout, familial Mediterranean fever and pericarditis and in recent years for dermatological indications including chronic urticaria, cutaneous vasculitis and psoriasis. Despite its efficacy in various cutaneous diseases, the use of colchicine may be limited by concerns over its side-effects and the potential for toxicity. This article reviews the current literature on the pharmacology of colchicine and its clinical applications in dermatology. Read More

    Duodenal amyloidosis secondary to ulcerative colitis.
    Intest Res 2018 Jan 18;16(1):151-154. Epub 2018 Jan 18.
    Department of Internal Medicine, Inje University Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.
    Amyloidosis is defined as the extracellular deposition of non-branching fibrils composed of a variety of serum-protein precursors. Secondary amyloidosis is associated with several chronic inflammatory conditions, such as rheumatologic or intestinal diseases, familial Mediterranean fever, or chronic infectious diseases, such as tuberculosis. Although the association of amyloidosis with inflammatory bowel disease is known, amyloidosis secondary to ulcerative colitis (UC) is rare. Read More

    Effect of oral Colchicine on Peripapillary retinal nerve fiber layer thickness in patients with familial Mediterranean fever.
    BMC Ophthalmol 2018 Feb 5;18(1):27. Epub 2018 Feb 5.
    Dr. Lutfi Kirdar Kartal Education and Research Hospital, Department of Ophthalmology, Semsi Denizer Caddesi, E-5, 34890, Kartal Istanbul, Turkey.
    Background: The purpose of this study is to investigate whether oral colchicine has an effect on peripapillary retinal nerve fiber layer (pRNFL) thickness of familial Mediterranean fever (FMF) patients.

    Methods: We conducted a cross sectional study by comparing pRNFL thickness of FMF patients on colchicine (treated group), newly diagnosed colchicine naïve FMF patients (untreated group) and healthy controls. The study included 66 FMF patients and 32 healthy control subjects. Read More

    Lack of clear and univocal genotype-phenotype correlation in familial Mediterranean fever patients: A systematic review.
    Clin Genet 2018 Feb 2. Epub 2018 Feb 2.
    Department of Pediatric, University of Messina, Messina, Italy.
    Familial Mediterranean fever (FMF) is the most common autosomal recessive autoinflammatory disease. To date, following the isolation of more than 280 MEFV sequence variants, the genotype-phenotype correlation in FMF patients has been intensively investigated; however, an univocal and clear consensus has not been yet reached. Thus, the aim of this systematic review was to analyze the available literature findings in order to provide to scientific community an indirect estimation of the impact of genetic factors on the phenotypic variability of FMF. Read More

    An unusual case of wheat dependent exercise induced anaphylaxis (WDEIA) triggered by Tri a 14 in a pediatric patient: a case report.
    Eur Ann Allergy Clin Immunol 2017 Nov 23. Epub 2017 Nov 23.
    UOC Pediatria e Neonatologia, Ospedale Guglielmo da Saliceto, Piacenza, Italia.
    Summary: Anakinra, one of the novel biological agents, is a recombinant human IL-1 receptor antagonist. It is preferred as an alternative drug for familial Mediterranean fever cases where colchicine is not sufficient or cannot be used due to its side effects. Like all other biologics, hypersensitivity reactions to anakinra are quite rare. Read More

    Successful rapid subcutaneous desensitization to anakinra in a case with a severe immediate-type hypersensitivity reaction.
    Eur Ann Allergy Clin Immunol 2018 Mar 22;50(2):94-96. Epub 2017 Nov 22.
    Erciyes University School of Medicine, Department of Chest Diseases, Division of Allergy and Clinical Immunology, Kayseri, Turkey.
    Summary: Anakinra, one of the novel biological agents, is a recombinant human IL-1 receptor antagonist. It is preferred as an alternative drug for familial Mediterranean fever cases where colchicine is not sufficient or cannot be used due to its side effects. Like all other biologics, hypersensitivity reactions to anakinra are quite rare. Read More

    Effects of mating patterns on genealogical trees: Assessment of the high carrier rate of Familial Mediterranean Fever in rural Israeli districts.
    J Theor Biol 2018 Apr 31;443:92-99. Epub 2018 Jan 31.
    Faculty of Biomedical Engineering, Technion, Israel Institute of Technology, Haifa, 32000, Israel. Electronic address:
    We investigate the spread from ancestors to descendants, under a model of sexual reproduction, of hereditary elements distinguishing individuals from their fellow human beings. These hereditary elements, termed labels, are either symbolic, implying a socio-cultural or ethnic self-determined category, or biological, i.e. Read More

    Small Intestinal Bacterial Overgrowth Affects the Responsiveness to Colchicine in Familial Mediterranean Fever.
    Mediators Inflamm 2017 12;2017:7461426. Epub 2017 Dec 12.
    Periodic Fever Research Centre, Department of Internal Medicine, Policlinico Gemelli Foundation, Catholic University of Sacred Heart, Rome, Italy.
    Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease due to a MEFV gene mutation. Sinceinfection has been described to increase the severity and frequency of FMF attacks, we evaluate if overgrowth of small intestinal bacterial (SIBO), associated with a release of bacterial products, can affect the response to colchicine in FMF patients poorly responsive to colchicine.

    Methods: We revised our Periodic Fever Centre database to detect FMF patients who were poorly responsive to colchicine, without a well-defined cause of drug resistance. Read More

    Obesity is a significant susceptibility factor for idiopathic AA amyloidosis.
    Amyloid 2018 Jan 24:1-9. Epub 2018 Jan 24.
    a Department of Medicine V, Amyloidosis Center and Division of Hematology, Oncology and Rheumatology , University of Heidelberg , Heidelberg , Germany.
    Background: To investigate obesity as susceptibility factor in patients with idiopathic AA amyloidosis.

    Methods: Clinical, biochemical and genetic data were obtained from 146 patients with AA amyloidosis. Control groups comprised 40 patients with long-standing inflammatory diseases without AA amyloidosis and 56 controls without any inflammatory disease. Read More

    Increased psoriasis frequency in patients with familial Mediterranean fever.
    Ups J Med Sci 2018 Mar 24;123(1):57-61. Epub 2018 Jan 24.
    a Division of Rheumatology, Department of Internal Medicine , Hacettepe University Faculty of Medicine , Ankara , Turkey.
    Objective: Familial Mediterranean fever (FMF) is a periodic fever syndrome caused by MEFV mutations. FMF may be associated with psoriasis in some cases. The prevalence of psoriasis in the normal Turkish population is 0. Read More

    Colchicine in renal diseases: present and future.
    Curr Pharm Des 2018 Jan 22. Epub 2018 Jan 22.
    National and Kapodistrian University of Athens, Medical School, Nephrology Department and Renal Transplantation Unit, Laiko Hospital Athens. Greece.
    Colchicine is a lipophilic alkaloid drug, which exhibits ant-inflammatory and anti-fibrotic properties. Cardinal mechanisms of action of colchicine are the disruption of the microtubule system and the inhibition of neutrophil adhesion and recruitment. Colchicine is indicated in the prevention and treatment of gouty arthritis and familial Mediterranean fever. Read More

    Atypical familial Mediterranean fever developed in a long-term hemodialysis patient.
    Hemodial Int 2018 Jan 18. Epub 2018 Jan 18.
    Department of Nephrology, Tsuchiura Kyodo General Hospital, Tsuchiura, Japan.
    Familial Mediterranean Fever (FMF) is usually an autosomal recessive autoinflammatory disease characterized by recurrent attacks of fever and serositis. FMF develops before the age of 20 years in 90% of patients. It has intervals of 1 week to several years between attacks, which leads to renal dysfunction-amyloidosis. Read More

    Isolating colchicine in 19th century: an old drug revisited.
    Curr Pharm Des 2018 Jan 14. Epub 2018 Jan 14.
    Biomedical Research Foundation, Academy of Athens, Athens. Greece.
    Colchicine is a tricyclic alkaloid extracted from the herbaceous plant Colchicum autumnale. Known since antiquity for its therapeutic efficacy in the treatment of gout, colchicine was reintroduced in 19th century pharmacopeia, thanks to the work of the French chemists and pharmacists Pierre-Joseph Pelletier (1788-1842) and Joseph Bienaime Caventou (1795-1877) who in 1819, isolated a peculiar substance in the roots of Colchicum autumnale. In 1833, the substance was further analyzed by the German pharmacist and chemist Philipp Lorenz Geiger (1785-1836), who coined the name colchicine. Read More

    The role of colchicine in the treatment of autoinflammatory diseases.
    Curr Pharm Des 2018 Jan 15. Epub 2018 Jan 15.
    Department of Pathophysiology, Medical School, National and Kapodistrian University of Athens. Greece.
    Colchicine has been longstanding and widely used for the treatment of acute gout flares and prevention of gout relapses. Its use has been extended to a series of autoinflammatory diseases, such as familial Mediterranean fever and more recently to periodic fever with aphthous stomatitis, pharyngitis and adenitis, Behcet's disease and idiopathic recurrent acute pericarditis. In this review, we summarize current indications of colchicine use, discuss its pharmacokinetics and mechanism of action and examine its use in the treatment of autoinflammatory diseases. Read More

    Very Rare Presentation of Cerebrovascular Accident in 20-Year-Old Man With Familial Mediterranean Fever-Case Report.
    Clin Med Insights Case Rep 2018 3;11:1179547617749208. Epub 2018 Jan 3.
    Student Research Committee, Urmia University of Medical Sciences, Urmia, Iran.
    Familial Mediterranean fever (FMF) is characterized by recurrent episodes of fever accompanied by serosal, synovial, or cutaneous inflammation. The central nervous system (CNS) is rarely involved in FMF. The CNS involvement includes demyelinating lesions, posterior reversible encephalopathy syndrome, pseudotumor cerebri, optic neuritis, and cerebral vasculitis. Read More

    Fatigue in pediatric patients with familial Mediterranean fever.
    Mod Rheumatol 2018 Feb 2:1-5. Epub 2018 Feb 2.
    a Department of Pediatrics, Division of Pediatric Rheumatology , Ankara University School of Medicine , Ankara , Turkey.
    Objectives: Familial Mediterranean fever (FMF) is characterized by recurrent, self-limited attacks of fever with serositis involving the peritoneum, pleura and joints. Fatigue is a common problem in many pediatric rheumatic diseases; however, has not been evaluated systematically in FMF patients. Accordingly, the aim of this study was to evaluate fatigue and its possible allied factors in patients with FMF. Read More

    Comparison of early versus late onset familial Mediterranean fever.
    Int J Rheum Dis 2018 Jan 5. Epub 2018 Jan 5.
    Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey.
    Aim: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. One of the common characteristics of this disease is its young age predominance. Nearly 90% of patients experience disease flares during early adult age periods. Read More

    MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever.
    Int J Rheum Dis 2018 Jan 5. Epub 2018 Jan 5.
    Department of Family Medicine and Diabetes, Kartal Dr. Lutfi Kirdar Training and Research Hospital, Istanbul, Turkey.
    Introduction: Familial Mediterranean fever (FMF) is characterized by recurrent attacks of polyserositis. Even though clinical assessment is accepted to be the most important factor in the diagnosis of FMF, some diagnostic procedures may help the physician. In this study, we aimed to compare the number of diagnostic procedures performed and number of physician referrals in early diagnosed and late diagnosed cases. Read More

    MicroRNA-204-3p inhibits lipopolysaccharide-induced cytokines in familial Mediterranean fever via the phosphoinositide 3-kinase γ pathway.
    Rheumatology (Oxford) 2017 Dec 25. Epub 2017 Dec 25.
    Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences.
    Objective: We sought to identify the microRNA (miRNA) profile and potential biomarkers in FMF and to clarify their gene targets to elucidate the pathogenesis of FMF.

    Methods: We performed an miRNA microarray using serum from FMF patients in attack and in remission. We then examined the expression of miRNAs in macrophages derived from THP-1 cells stimulated with toll-like receptor (TLR) ligands. Read More

    Evaluation of Subclinical Atherosclerosis by Ultrasound Radiofrequency Data Technology in Patients With Familial Mediterranean Fever.
    J Ultrasound Med 2017 Dec 23. Epub 2017 Dec 23.
    Departments of Rheumatology, Diskapi Yildirim Beyazit Research and Training Hospital, Ankara, Turkey.
    Objectives: The aim of this study was to noninvasively demonstrate the presence of early risk associated with subclinical inflammatory activity in patients with familial Mediterranean fever (FMF) who had stable disease, using ultrasound (US) radiofrequency data technology.

    Methods: A total of 110 participants, including 55 patients with FMF and 55 healthy control participants, were evaluated with Doppler US. The intima-media thickness and arterial stiffness were measured from bilateral common carotid arteries (CCAs) by the radiofrequency method. Read More

    Association of amyloidosis cutis dyschromica and familial Mediterranean fever.
    An Bras Dermatol 2017 ;92(5 Suppl 1):21-23
    Department of Gastroenterology, Mugla Sitki Kocman University Medical School - Mugla, Turkey.
    Amyloidosis cutis dyschromica is a rare type of primary cutaneous amyloidosis characterized by reticulate hyper-pigmentation with discrete hypopigmented macules. Up to date, about 50 cases of amyloidosis cutis dyschromica have been reported and the majority are familial cases of Asian ethnicity. Various diseases, particularly autoimmune diseases such as systemic sclerosis and systemic lupus erythematosus, have been associated with amyloidosis cutis dyschromica. Read More

    Does thiol-disulphide balance show oxidative stress in different MEFV mutations?
    Rheumatol Int 2018 Jan 19;38(1):97-104. Epub 2017 Dec 19.
    Department of Clinical Biochemistry, Ataturk Training and Research Hospital, Ankara, Turkey.
    Many studies have shown that oxidative stress levels increase in patients with Familial Mediterranean Fever (FMF). Thiols are a class of compounds that include a sulfhydryl group (-SH) and can react with free oxygen radicals to protect tissues. We aimed to investigate thiol-disulphide homeostatic status in FMF patients and examined the effect of different mutations in the MEFV gene on the thiol-disulphide balance. Read More

    The NLRC4 Inflammasome.
    Immunol Rev 2018 Jan;281(1):115-123
    Pediatric Rheumatology & RK Mellon Institute for Pediatric Research, Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, USA.
    15 years ago, the fundamental biology of an inflammatory signaling complex eventually dubbed "the inflammasome" began to unravel in chronologic parallel with the discovery that many inflammatory diseases were associated with its hyperactivity. Though the genetic origins of Familial Mediterranean Fever (FMF, caused my mutations in MEFV) were discovered first, it would take nearly two decades before the mechanistic connections to a PYRIN inflammasome were made. In the interim, the intensive study of the NLRP3 inflammasome, and the diseases associated with its hyperactivation, have largely dictated the paradigm of inflammasome composition and function. Read More

    A Case of Familial Mediterranean Fever Having Intermittent Leukopenia.
    J Pediatr Hematol Oncol 2018 Mar;40(2):e111-e112
    Department of Pediatrics, Division of Pediatric Nephrology/Rheumatology, Near East University Hospital, Nicosia, Turkey.
    Familial Mediterranean fever (FMF) is a genetically inherited autoinflammatory disorder characterized by inflammatory attacks and may result in amyloidosis as a severe complication. Elevation of acute phase reactants, including leukocytosis, is seen during attack periods. Here we describe a 13-year-old female patient with a very rare clinical presentation of FMF, who would experience FMF attacks when she did not regularly take her colchicine. Read More

    Efficacy of anakinra in a patient with systemic amyloidosis presenting as amyloidoma.
    Int J Rheum Dis 2018 Feb 13;21(2):552-559. Epub 2017 Dec 13.
    Department of Radiology, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.
    Amyloidosis is a heterogeneous group of disorders characterized by extracellular deposition of unique protein fibrils. The least common presentation of an amyloid deposition is as a discrete mass called amyloidoma or amyloid tumor. We report a case of a soft tissue amyloidoma in the abdomen of a 16-year-old girl who was diagnosed as having systemic amyloidosis. Read More

    Multiple pelvic cysts in a patient with familial Mediterranean fever: Benign cystic mesothelioma.
    J Cancer Res Ther 2017 Oct-Dec;13(6):1047-1049
    Department of Medical Oncology, Akdeniz University School of Medicine, Antalya, Turkey.
    Benign cystic mesothelioma (BCM) is a rare tumor arising from endothelial cells of the pelvic visceral or parietal peritoneum. It is a clinically and histopathologically benign disease. Etiology and pathogenesis of BCM remain unclear. Read More

    Alteration of the microRNA expression profile in familial Mediterranean fever patients.
    Clin Exp Rheumatol 2017 Nov-Dec;35 Suppl 108(6):90-94. Epub 2017 Nov 27.
    Department of Medical Biology, Hacettepe University, Ankara; and Department of Medical Biology, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey.
    Objectives: Phenotypic heterogeneity in familial Mediterranean fever (FMF) disease indicated that FMF is not a simple monogenic disease. Therefore it has been suggested that epigenetic factors can be one of the reason for the variations. We undertook this study to test potential involvement of miRNAs in the pathogenesis of FMF. Read More

    Analysis of the Most Common Three MEFV Mutations in 630 Patients with Familial Mediterranean Fever in Iranian Azeri Turkish Population.
    Maedica (Buchar) 2017 Sep;12(3):169-173
    Cellular and Molecular Research Center, Urmia University of Medical Sciences, Urmia, Iran.
    Introduction: The aim of the present study was to determine the frequency of M694V, M680I and V726A mutations of the MEFV gene in 630 Azeri Turkish patients with family Mediterranean fever.

    Material And Methods: The MEFV gene mutations were detected using allele-specific oligonucleotide polymerase chain reaction.

    Outcomes: 630 cases with a mean age ± SD of 28. Read More

    Retin Cases Brief Rep 2018 Jan 16. Epub 2018 Jan 16.
    Department of Ophthalmology, CHU Saint-Pierre, Université Libre de Bruxelles, Brussels, Belgium.
    Purpose: To present a case of frosted branch periphlebitis in a young Armenian patient with familial Mediterranean fever.

    Methods: Case report.

    Results: A 37-year-old man presented with a unilateral decreased visual acuity and floaters for 4 days on the left eye (LE). Read More

    Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.
    Mol Genet Genomic Med 2017 11 9;5(6):742-750. Epub 2017 Oct 9.
    Department of Molecular Genetics, Morava Scientific & Technology Services, Glendale, California.
    Background: Familial Mediterranean Fever (FMF) is an autoinflammatory disorder caused by mutations in the MEFV gene. These mutations appear in different populations with different frequencies and their caused symptom severities vary from mild to moderate to severe depending on the mutation type.

    Methods: In this study, we analyzed the mutations that have been reported in the MEFV gene from symptomatic FMF patients and compared their frequencies in different populations from the 1000 Genome and the Exome databases, using statistical clustering. Read More

    Clinical outcomes and survival in AA amyloidosis patients.
    Rev Bras Reumatol Engl Ed 2017 Nov - Dec;57(6):535-544. Epub 2017 Mar 23.
    Uludağ University Faculty of Medicine, Department of Nephrology, Bursa, Turkey.
    Aim: Amyloid A amyloidosis is a rare complication of chronic inflammatory conditions. Most patients with amyloid A amyloidosis present with nephropathy and it leads to renal failure and death. We studied clinical characteristics and survival in patients with amyloid A amyloidosis. Read More

    Investigation of MEFV gene polymorphisms (G138G and A165A) in adult patients with familial Mediterranean fever.
    Rev Bras Reumatol Engl Ed 2017 Nov - Dec;57(6):501-506. Epub 2016 Mar 10.
    Uludag University, Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Bursa, Turkey.
    Aim: Various mutations have been identified in the Mediterranean fever (MEFV) gene which is reported to be responsible from Familial Mediterranean fever (FMF). In our study, we aimed to determine the frequency of the MEFV mutations in our region and to investigate the impact of G138G (rs224224, c.414A>G) and A165A (rs224223, c. Read More

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