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Clin Case Rep 2019 Apr 12;7(4):801-805. Epub 2019 Mar 12.

Division of Clinical Nephrology and Rheumatology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan.

We present a 55-year-old woman with periodic fever and symptoms similar to adult-onset Still's disease (AOSD). She had a heterogeneous mutation of the gene and colchicine was effective. Atypical familial Mediterranean fever (pyrin-associated autoinflammatory disease) should be considered in patients with periodic fever accompanied by symptoms similar to AOSD. Read More

Intern Med 2019 Apr 17. Epub 2019 Apr 17.

Department of Rheumatology, Fukushima Medical University School of Medicine, Japan.

We herein report a Japanese patient with familial Mediterranean fever (FMF) who developed the clinical manifestations of mixed connective tissue disease (MCTD) and Sjögren's syndrome. The patient was a 36-year-old woman presenting with a periodic short-duration (2-3 days) fever and pleural pain. An MEFV gene analysis detected a complex allele mutation (P369S/R408Q) in exon 3 of the MEFV gene. Read More

J Allergy Clin Immunol Pract 2019 Apr;7(4):1376

Division of Allergy and Clinical Immunology, Department of Pediatrics, University of Health Sciences, Ankara Health Research and Application Center, Ankara, Turkey.

Pediatr Neonatol 2019 Mar 20. Epub 2019 Mar 20.

Assistance Publique - Hôpitaux de Paris, Hôpital Tenon, Service de médecine interne, F-75020, Paris, France.

PLoS Genet 2019 Apr 4;15(4):e1008038. Epub 2019 Apr 4.

Department of Internal Medicine, Division of Rheumatology, Celal Bayar University, Manisa, Turkey.

Ankylosing spondylitis (AS) is a highly heritable immune-mediated arthritis common in Turkish and Iranian populations. Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disease most common in people of Mediterranean origin. MEFV, an FMF-associated gene, is also a candidate gene for AS. Read More

Clin Exp Rheumatol 2019 Mar 18. Epub 2019 Mar 18.

Division of Rheumatology and Clinical Immunology, Med. Klinik und Poliklinik IV, University of Munich, Germany.

Objectives: Autonomic dysfunction (AD) has been described in various chronic inflammatory diseases. Studies of AD in patients with familial Mediterranean fever (FMF) are inconclusive. We aimed to assess AD in a cohort of FMF patients. Read More

Immunol Med 2018 Jun 7;41(2):55-61. Epub 2018 Sep 7.

b Department of Immunology and Rheumatology, Unit of Translational Medicine, Graduate School of Biomedical Sciences , Nagasaki University , Nagasaki , Japan.

Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, and is characterized by recurrent attacks of fever and polyserositis. It is associated with mutations in the MEFV gene encoding pyrin, which result in inflammasome activation and the uncontrolled production of IL-1β. FMF mainly affects individuals originating from the Mediterranean basin; however, a Japanese nationwide survey demonstrated that FMF is not uncommon in Japan. Read More

World Allergy Organ J 2019 14;12(3):100019. Epub 2019 Mar 14.

Department of Dermatology and Allergy, Charité - Universitätsmedizin Berlin, Germany.

Background: Systemic autoinflammatory diseases (SAIDs) are rare debilitating disorders of which there is limited awareness and a significant delay in diagnosis. There is no uniform approach in the diagnosis and treatment of these disorders and the real life state of SAID patient care is poorly characterized. The aim of this study was to obtain data on the epidemiology, state of care and the perception of physicians who are involved in the care of SAID patients. Read More

Int J Inflam 2019 13;2019:2578760. Epub 2019 Feb 13.

Department of Internal Medicine and Hematology, Faculty of Medicine, Alexandria University, Egypt.

Background: Familial Mediterranean Fever (FMF) is a hereditary autosomal recessive disease which is mainly seen in the Turks, Armenians, Arabs, and Jews. It is characterized by recurrent episodes of fever, polyserositis, and rash. MEFV gene, encoding pyrin protein, is located on the short arm of chromosome 16. Read More

Rheumatology (Oxford) 2019 Mar 21. Epub 2019 Mar 21.

Stem cells, Cellular Plasticity, Regenerative Medicine and Immunotherapies, INSERM, University of Montpellier.

Med Hypotheses 2019 Apr 18;125:109. Epub 2019 Feb 18.

Dokuz Eylul University School of Medicine, Department of Pediatrics, Divison of Rheumatology, Izmir, Turkey. Electronic address:

Turk J Med Sci 2019 04 18;49(2):472-477. Epub 2019 Apr 18.

Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF) patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter study. Read More

Arch Rheumatol 2018 Dec 23;33(4):473-477. Epub 2018 Mar 23.

Department of Pediatric Surgery, Ege University School of Medicine, İzmir, Turkey.

Symptoms of infantile inflammatory bowel disease (I-IBD) can be life-threatening and associated with poor prognosis. The presence of Mediterranean fever (MEFV) gene mutations play an important role in treatment of I-IBD. In this article, we describe a case of I-IBD with a resistant fistula, in which remission occurred following colchicine therapy. Read More

Clin Exp Rheumatol 2019 Mar 4. Epub 2019 Mar 4.

Operational Research Unit, Operational Centre Brussels, Médecins sans Frontières, Luxembourg.

Mediterr J Hematol Infect Dis 2019 1;11(1):e2019018. Epub 2019 Mar 1.

National Institute of Immunohaematology, 13 the floor KEM hospital MS building, Parel, Mumbai 400012, Maharashtra, India.

An otherwise healthy male child of 9 years presented with paroxysmal fever and diffuse abdominal pain along with the loss of appetite and nausea lasting for 3-4 days every 4-6 weeks in the last two years. He also has stretchable skin and hypermobile joints, inherited from his mother who never suffered any paroxysmal attack of the kind. Work up for acute intermittent porphyria, lead poisoning, and familial Mediterranean fever was negative. Read More

Clin Drug Investig 2019 Mar 7. Epub 2019 Mar 7.

University Department Pro.Sa.M.I, "G. D'Alessandro", University of Palermo, Via dei Benedettini, 1, 90134, Palermo, Italy.

Systemic juvenile idiopathic arthritis (sJIA) is an autoinflammatory disease characterised by fever and arthritis. We describe the case of a 14-year-old girl hospitalised with fever associated with rash, myalgia, arthralgia and polyarticular involvement. Examinations revealed increased levels of C-reactive protein, erythrocyte sedimentation rate, ferritin, triglycerides, leukocytes, neutrophils, lactate dehydrogenase, fibrinogen, aspartate aminotransferase (AST), alanine aminotransferase (ALT) and γ-glutamyl transferase (GGT). Read More

J Addict Med 2019 Mar 4. Epub 2019 Mar 4.

University of Toronto, Faculty of Medicine (XW); Centre of Addiction and Mental Health, Addictions Division (FDP, NC); University of Toronto, Department of Family & Community Medicine (FDP); University of Toronto, Department of Psychiatry, Ontario, Canada (NC).

: Reporting of intoxication and withdrawal from aberrant use of over-the-counter medication has been sparse and inconsistent in literature. Attributed to their anticholinergic properties, medications such as dimenhydrinate (Gravol) taken in supratherapeutic doses have been associated with euphoria, anxiolysis, and hallucinations. We present a case of a woman in her forties, with a psychiatric history of bipolar disorder, and complex concurrent medical history including familial Mediterranean fever (FMF), and fibromyalgia, admitted for withdrawal management of her intravenous dimenhydrinate use. Read More

Clin Rheumatol 2019 Mar 2. Epub 2019 Mar 2.

Department of Internal Medicine, Division of Rheumatology, Gazi University Faculty of Medicine, 06100, Yenimahalle/Ankara, Turkey.

Objective: The objective of this study was to assess the impact of Familial Mediterranean Fever (FMF) attacks on daily physical activity and detect FMF attacks using a connected activity tracker.

Methods: Patients with FMF according to the Tel-Hashomer criteria were included in this prospective observational study. Attack-related data were collected weekly via phone call to avoid memory bias. Read More

Clin Rheumatol 2019 Mar 2. Epub 2019 Mar 2.

Department of Pediatric Nephrology and Rheumatology, Dr. Sami Ulus Maternity and Child Health and Diseases Training and Research Hospital, Ankara, Turkey.

Objective: To explore the frequency of MEFV gene mutations in children with Henoch-Schönlein purpura who had no prior familial Mediterranean fever diagnosis and to evaluate the association of MEFV mutations with the clinical and laboratory features of Henoch-Schönlein purpura.

Methods: Data of 1120 patients diagnosed with Henoch-Schönlein purpura were reviewed retrospectively. The spectrum and degree of organ involvement and acute phase reactant levels were documented for each patient. Read More

Brain Pathol 2019 03;29(2):312

Section of Neuropathology, Brain Research Institute, Ronald Reagan University of California, Los Angeles, CA.

Ann Lab Med 2019 Jul;39(4):345-357

Departments of Rheumatology and Research and Development, Dudley Group NHS Foundation Trust (Teaching Trust of the University of Birmingham, UK), Russells Hall Hospital, Dudley, West Midlands, UK.

The platelet-to-lymphocyte ratio (PLR) has emerged as an informative marker revealing shifts in platelet and lymphocyte counts due to acute inflammatory and prothrombotic states. PLR has been extensively examined in neoplastic diseases accompanied by immune suppression and thrombosis, which can be predicted by combined blood cell counts and their ratios. Several large observational studies have demonstrated the value of shifts in PLR in evaluating the severity of systemic inflammation and predicting infections and other comorbidities, in inflammatory rheumatic diseases. Read More

Rheumatology (Oxford) 2019 Feb 21. Epub 2019 Feb 21.

Department of Pediatric Rheumatology, University of Health Science, Ankara Training and Research Hospital, Ankara, Turkey.

Rheumatology (Oxford) 2019 Feb 21. Epub 2019 Feb 21.

Grupo de Investigación en Reumatología, Autoinmunidad y Medicina Traslacional, Fundación Valle Del Lili and Universidad Icesi, Cali, Colombia.

Scand J Rheumatol 2019 Feb 21:1-5. Epub 2019 Feb 21.

a Department of Internal Medicine, Division of Rheumatology, Faculty of Medicine , Gazi University , Ankara , Turkey.

Background: Chronic inflammation, as determined by persistently elevated acute-phase reactants in attack-free periods, can occasionally be observed in patients with familial Mediterranean fever (FMF) and is suggested to be a risk factor for the development of amyloidosis. We aimed to investigate the underlying causes of chronic inflammation in FMF patients and its association with amyloidosis in long-term follow-up.

Method: Electronic medical records of FMF patients who had regular follow-up for ≥ 5 years in our cohort were utilized. Read More

Rheumatol Int 2019 Feb 19. Epub 2019 Feb 19.

Department of Molecular Biology-Genetics and Biotechnology, Dr. Orhan Öcalgiray Molecular Biology-Biotechnology and Genetics Research Centre, Graduate School of Science, Engineering and Technology, İstanbul Technical University, Ayazağa Campus, Maslak, 34469, Istanbul, Turkey.

Systemic autoinflammatory diseases (sAIDs) are a heterogeneous group of disorders, having monogenic inherited forms with overlapping clinical manifestations. More than half of patients do not carry any pathogenic variant in formerly associated disease genes. Here, we report a cross-sectional study on targeted Next-Generation Sequencing (NGS) screening in patients with suspected sAIDs to determine the diagnostic utility of genetic screening. Read More

Arch Med Sci Atheroscler Dis 2018 7;3:e106-e111. Epub 2018 Aug 7.

Department of Pediatrics, National Research Centre, Dokki, Egypt.

Introduction: Familial Mediterranean fever (FMF) is an autosomal recessive disease. It is characterized by recurrent crises of fever and serosal inflammation. Although FMF patients are symptom free in between attacks, subclinical inflammation continues during the attack-free period. Read More

Arch Med Sci Atheroscler Dis 2018 29;3:e96-e98. Epub 2018 Jun 29.

Second Propedeutic Department of Internal Medicine, General Hospital Hippokration, Aristotle University of Thessaloniki, Thessaloniki, Greece.

Support Care Cancer 2019 Feb 14. Epub 2019 Feb 14.

Department of Oncology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.

The most common adverse event (AE) of dabrafenib and trametinib (DT) is pyrexia, which has been reported to occur in up to 71% of patients. Pyrexia resulted in therapy discontinuation in up to 26% of patients that otherwise were benefiting from the treatment. Little is known about the pathogenesis and optimal management of this common AE. Read More

Int J Pediatr Otorhinolaryngol 2019 Apr 1;119:185-192. Epub 2019 Feb 1.

Department of Pediatrics, Division of Pediatric Rheumatology, Hacettepe University Faculty of Medicine, 06100, Sihhiye, Ankara, Turkey.

Objectives: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It usually has a childhood onset and is characterized with recurrent attacks with irregular intervals. Few studies have been performed to investigate hearing in FMF patients ran with various tests and showed different results. Read More

J Clin Lab Anal 2019 Feb 4:e22852. Epub 2019 Feb 4.

Department of Pediatric Rheumatology and Nephrology, Ankara University School of Medicine, Ankara, Turkey.

Background: Familial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease-causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation. Read More

Immunol Med 2018 Dec 3;41(4):177-180. Epub 2019 Feb 3.

a Unit of Advanced Preventive Medical Sciences , Nagasaki University Graduate School of Biomedical Sciences , Nagasaki , Japan.

Autoinflammatory diseases are characterized by recurrent systemic inflammation due to dysfunction of the innate immune system, and they are originally the hereditary recurrent fever syndromes that develop in early childhood. Many cases are thus diagnosed in the pediatric field, but there are many cases that are not diagnosed until adulthood, including adult-onset cases. Accordingly, not only pediatricians but also rheumatologists and primary care physicians play a major role in the diagnosis and treatment of autoinflammatory diseases. Read More

Intern Med 2019 Feb 1. Epub 2019 Feb 1.

Department of Immunology and Rheumatology, Nagasaki University Graduate School of Biomedical Sciences, Japan.

A 53-year-old man with recurrent episodes of large joint pain and a low-grade fever at irregular intervals for 16 years developed right knee and ankle arthralgia, watery diarrhea, and abdominal pain. Following an ileum and colon biopsy, he was diagnosed with gastrointestinal amyloidosis. We suspected familial Mediterranean fever (FMF) based on his history and administered colchicine; his symptoms subsequently improved. Read More

Brain Pathol 2019 03;29(2):311

Department of Pathology, Sorbonne Université, AP-HP, Tenon Hospital, Paris, France.

Clin Rheumatol 2019 Mar 31;38(3):921-926. Epub 2019 Jan 31.

Department of Pediatric Rheumatology, Cukurova University Faculty of Medicine, Saricam, 01331, Adana, Turkey.

Introduction: Familial Mediterranean fever (FMF) is characterized by self-limiting fever episodes usually accompanied by serositis, arthralgia, and arthritis. Functional gastrointestinal disorders (FGIDs) are diseases in which brain-gut axis and low-grade inflammation take part in pathogenesis. We aimed to study the FGIDs frequencies and possible risk factors for FGIDs in children with FMF. Read More

Eur Cytokine Netw 2018 Nov;29(4):127-135

Lebanese University, Faculty of Sciences II, Department of Life and Earth Sciences, Beirut, Lebanon.

Familial Mediterranean fever (FMF) is a recessively inherited autoinflammatory disorder. The caspase-1-dependent cytokine, IL-1β, plays an important role in FMF pathogenesis, and RAC1 protein has been recently involved in IL-1β secretion. This study aims to investigate RAC1 expression and role in IL-1β and caspase-1 production and oxidative stress generation in FMF. Read More

Leuk Lymphoma 2019 Jan 30:1-3. Epub 2019 Jan 30.

a Department of Medicine , Weill Cornell Medicine , New York , NY , USA.

Presse Med 2019 Feb 24;48(1 Pt 2):e25-e48. Epub 2019 Jan 24.

AP-HP, hôpital Tenon, Sorbonne université, service de médecine interne, centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), 75020 Paris, France; Assistance publique-Hôpitaux de Paris, hôpital Trousseau, université Pierre-et-Marie-Curie (UPMC)-Paris 6, Inserm UMRS_933, 75012 Paris, France.

Autoinflammatory diseases are characterized by innate immunity abnormalities. In autoinflammatory diseases (AID), inflammatory blood biomarkers are elevated during crisis without infection and usually without autoantibodies. The first 4 described AID were familial Mediterranean fever, cryopyrin-associated periodic fever syndrome (CAPS) or NLRP3-associated autoinflammatory disease (NRLP3-AID), mevalonate kinase deficiency (MKD) and TNFRSF1A-receptor associated periodic fever syndrome (TRAPS). Read More

Presse Med 2019 Feb 25;48(1 Pt 2):e61-e76. Epub 2019 Jan 25.

University of Istanbul-Cerrahpasa, Cerrahpasa Medical Faculty, Division of Rheumatology, Department of Internal Medicine, 34098 Istanbul, Turkey.

Familial Mediterranean Fever (FMF) is the oldest and the most frequent of all described hereditary periodic fever syndromes. The populations originating from Mediterranean basin carry the highest risk for FMF however it is being increasingly recognized in many parts of the world. It is an autoinflammatory disease with an autosomal recessive transmission. Read More

Z Rheumatol 2019 Feb;78(1):91-101

Rheumazentrum Ruhrgebiet, Claudiusstr. 45, 44649, Herne, Deutschland.

Background: Familial Mediterranean fever (FMF) in Germany is a rare, genetically linked disease of childhood and adolescence, which is characterized by recurrent febrile episodes and clinical signs of peritonitis, pleuritis and arthritis. Treatment with colchicine is effective and well-tolerated in the majority of patients; however, some patients do not sufficiently respond to this treatment or are intolerant to colchicine. For these patients first-line treatment with biologics which block interleukin-1 can be used. Read More

Clin Case Rep 2019 Jan 25;7(1):155-159. Epub 2018 Nov 25.

Japanese Red Cross Society Osaka Japan.

A periodic fever, due to inherited inflammatory disorders, can be misdiagnosed as a common infection, when a possible pathogen is detected from a patient. SNPs that are responsible for asymptomatic bacteriuria might disturb the pathophysiology of familial Mediterranean fever without mutations. Read More

J Biol Chem 2019 Mar 15;294(10):3359-3366. Epub 2019 Jan 15.

From the Novartis Institutes for Biomedical Research, Cambridge, Massachusetts 02139 and

Bile acids are critical metabolites in the gastrointestinal tract and contribute to maintaining intestinal immune homeostasis through cross-talk with the gut microbiota. The conversion of bile acids by the gut microbiome is now recognized as a factor affecting both host metabolism and immune responses, but its physiological roles remain unclear. We conducted a screen for microbiome metabolites that would function as inflammasome activators and herein report the identification of 12-oxo-lithocholic acid (BAA485), a potential microbiome-derived bile acid metabolite. Read More

JRSM Cardiovasc Dis 2019 Jan-Dec;8:2048004018823856. Epub 2019 Jan 3.

Department of Cardiology, Faculty of Medicine, Bozok University, Yozgat, Turkey.

Objective: In this study, we aimed at correlating the thickness of epicardial adipose tissue and levels of Vitamin D with cardiac risk in patients with familial Mediterranean fever.

Methods: Sixty-five patients with familial Mediterranean fever and 38 healthy controls with matching age and sex were included in the study. The patients with a history of familial Mediterranean fever attacks within the previous two weeks or with any history of inflammatory or cardiovascular disease were excluded. Read More

Am J Clin Dermatol 2019 Jan 10. Epub 2019 Jan 10.

Assistance Publique-Hôpitaux de Paris, Département de Pathologie, Hôpital Saint-Louis, Paris, France.

Neutrophilic dermatoses (ND) are a group of conditions characterized by an aseptic accumulation of polymorphonuclear leukocytes in the skin. Occurrence of ND in association with myeloid malignancies, mainly myelodysplastic syndrome and myelogenous acute leukemia, is not rare and is often associated with a poor prognosis. Recent findings have improved understanding of the pathophysiology of myeloid malignancy-associated ND. Read More

Int J Lab Hematol 2019 Apr 9;41(2):293-297. Epub 2019 Jan 9.

Department of Pediatric Rheumatology and Nephrology, Faculty of Medicine, Gazi University, Ankara, Turkey.

Introduction: Few data are available on the clinical utility of new red cell parameters for detecting anemia in children with inflammatory diseases. The aim was to investigate the utility of three new red cell parameters for distinguishing functional iron deficiency (FID) from absolute iron deficiency (AID) in children with familial Mediterranean fever (FMF).

Methods: The study involved 198 children with genetically confirmed FMF and 18 healthy-age and sex-matched controls. Read More

Clin Rheumatol 2019 Mar;38(3):645

Faculty of Medicine, Department of Medical Genetics, Ege University, Izmir, Turkey.

The name of the last author of this article was incorrectly presented as "Cogulu Ozgur" this should have been "Ozgur Cogulu". Read More

Acta Neurol Belg 2019 Jan 2. Epub 2019 Jan 2.

Clinic of Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey.

Rheumatol Int 2019 Mar 3;39(3):431-440. Epub 2019 Jan 3.

Department of Pediatric Rheumatology, Cerrahpasa Medical School, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Pediatric Rheumatology is an emerging specialty in Turkey with increasing number of available centers and specialists all over the country. In this paper, we sought to provide an overview on pediatric rheumatology service in our country, as well as to assess the principle published literature from Turkey in this field. A systematic literature search has been performed to achieve the significance and the impact of this manuscript. Read More

Rheumatol Int 2019 Mar 2;39(3):517-523. Epub 2019 Jan 2.

Department of Internal Medicine F, The Chaim Sheba Medical Center, 52621, Tel-Hashomer, Israel.

Colchicine is the mainstay of treatment for familial Mediterranean fever (FMF). Intravenous (IV) colchicine, administered over several months, has been shown to be effective for FMF patients unresponsive to oral colchicine. The objective of this study was to evaluate the efficacy and safety of long-term IV colchicine treatment in oral colchicine-resistant FMF. Read More

Dtsch Med Wochenschr 2019 01 2;144(1):35-38. Epub 2019 Jan 2.

Universitätsfrauenklinik Freiburg.

History And Clinical Findings: We report of three pregnancies, two with renal insufficiency and one with a history of renal transplantation. Pat.1 is a 32y at 20 weeks of gestation with acute renal failure, nephrotic syndrome and history of familial Mediterranean fever. Read More