4,192 results match your criteria Mediterranean Fever Familial


Comment on: Tofacitinib for familial Mediterranean fever: a new alternative therapy?

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

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

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http://dx.doi.org/10.1093/rheumatology/kez032DOI Listing
February 2019

Comment on: Tofacitinib for familial Mediterranean fever: a new alternative therapy?: reply.

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.

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http://dx.doi.org/10.1093/rheumatology/kez047DOI Listing
February 2019

Chronic inflammation in adult familial Mediterranean fever patients: underlying causes and association with amyloidosis.

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

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http://dx.doi.org/10.1080/03009742.2018.1558282DOI Listing
February 2019

Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.

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

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http://dx.doi.org/10.1007/s00296-019-04252-5DOI Listing
February 2019

Intima media thickness as an early predictor of atherosclerosis in Egyptian children with familial Mediterranean fever.

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

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http://dx.doi.org/10.5114/amsad.2018.77545DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374578PMC
August 2018
1 Read

Canakinumab: can it untie the Gordian knot of cardiovascular disease in patients with familial Mediterranean fever?

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.

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http://dx.doi.org/10.5114/amsad.2018.76866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374570PMC

Case series of dabrafenib-trametinib-induced pyrexia successfully treated with colchicine.

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

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http://dx.doi.org/10.1007/s00520-019-4654-2DOI Listing
February 2019
1 Read

Evaluation of hearing in pediatric familial Mediterranean fever patients during attack period and attack-free period.

Int J Pediatr Otorhinolaryngol 2019 Feb 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

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http://dx.doi.org/10.1016/j.ijporl.2019.01.042DOI Listing
February 2019
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Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.

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

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http://dx.doi.org/10.1002/jcla.22852DOI Listing
February 2019
2 Reads

Diagnosis and treatment of autoinflammatory diseases in adults: a clinical approach from rheumatologists.

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

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https://www.tandfonline.com/doi/full/10.1080/25785826.2018.1
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http://dx.doi.org/10.1080/25785826.2018.1524105DOI Listing
December 2018
8 Reads

Atypical Familial Mediterranean Fever Complicated with Gastrointestinal Amyloidosis Diagnosed Due to Paroxysmal Arthralgia and Intractable Diarrhea, Successfully Treated with Tocilizumab.

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

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http://dx.doi.org/10.2169/internalmedicine.2277-18DOI Listing
February 2019
1 Read

Commentary to "A 44-year old female with familial Mediterranean fever, cardiomyopathy, and end stage renal disease" by Magaki et al.

Brain Pathol 2019 Feb 1. Epub 2019 Feb 1.

Pathology, Tenon Hospital, Paris, France.

We would like to comment on the "Case of the Month" by Magaki et al, entitled "A 44-year old female with familial Mediterranean fever, cardiomyopathy, and end stage renal disease" (3). In this case report, the authors describe the autopsy findings in a patient with systemic AA amyloidosis secondary to familial Mediterranean fever. The patient also had cardiomyopathy with severely reduced left ventricular ejection and death due to cardiac arrest; however, no details about cardiovascular risk factors, cardiac pre-mortem explorations, and heart gross examination were provided. Read More

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http://dx.doi.org/10.1111/bpa.12712DOI Listing
February 2019
1 Read

Frequency of functional gastrointestinal disorders in children with familial Mediterranean fever.

Clin Rheumatol 2019 Jan 31. 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

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http://dx.doi.org/10.1007/s10067-019-04452-1DOI Listing
January 2019
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RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients.

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

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http://dx.doi.org/10.1684/ecn.2018.0416DOI Listing
November 2018
6 Reads

The application of precision medicine in diagnosing familial Mediterranean fever.

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

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

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https://www.tandfonline.com/doi/full/10.1080/10428194.2019.1
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http://dx.doi.org/10.1080/10428194.2019.1571204DOI Listing
January 2019
4 Reads

Autoinflammatory diseases: State of the art.

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

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http://dx.doi.org/10.1016/j.lpm.2018.12.003DOI Listing
February 2019
1 Read

Familial Mediterranean Fever.

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

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http://dx.doi.org/10.1016/j.lpm.2018.08.014DOI Listing
February 2019
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[Evidence-based treatment recommendations for familial Mediterranean fever : A joint statement by the Society for Pediatric and Adolescent Rheumatology and the German Society for Rheumatology].

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

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http://dx.doi.org/10.1007/s00393-018-0588-1DOI Listing
February 2019
2 Reads

Toll-like receptor 4 promoter polymorphisms in a familial mediterranean fever patient with asymptomatic bacteriuria.

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

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http://doi.wiley.com/10.1002/ccr3.1941
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http://dx.doi.org/10.1002/ccr3.1941DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333084PMC
January 2019
6 Reads

The relation of novel cardiovascular risk parameters in patients with familial Mediterranean fever.

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

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http://dx.doi.org/10.1177/2048004018823856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322093PMC
January 2019
1 Read

Neutrophilic Dermatoses Associated with Myeloid Malignancies.

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

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http://dx.doi.org/10.1007/s40257-018-00418-2DOI Listing
January 2019
6 Reads

Utility of new red cell parameters for distinguishing functional iron deficiency from absolute iron deficiency in children with familial Mediterranean fever.

Int J Lab Hematol 2019 Jan 9. 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

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http://doi.wiley.com/10.1111/ijlh.12971
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http://dx.doi.org/10.1111/ijlh.12971DOI Listing
January 2019
5 Reads

Correction to: Evaluation of the effects of miRNAs in familial Mediterranean fever.

Clin Rheumatol 2019 Jan 7. Epub 2019 Jan 7.

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

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http://dx.doi.org/10.1007/s10067-018-04409-wDOI Listing
January 2019
6 Reads

Colchicine-induced myoneuropathy with myotonia in a patient with familial Mediterranean fever.

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

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

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http://dx.doi.org/10.1007/s13760-018-01070-7DOI Listing
January 2019
4 Reads

Pediatric rheumatology in 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

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http://dx.doi.org/10.1007/s00296-018-04236-xDOI Listing
March 2019
3 Reads

Efficacy and safety of long-term treatment with intravenous colchicine for familial Mediterranean fever (FMF) refractory to oral colchicine.

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

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http://dx.doi.org/10.1007/s00296-018-04237-wDOI Listing
March 2019
5 Reads
1.627 Impact Factor

[Prenatal care in patients with renal disease].

Dtsch Med Wochenschr 2019 Jan 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

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http://dx.doi.org/10.1055/a-0794-8391DOI Listing
January 2019
2 Reads

Intermittent right bundle branch block in a child with familial mediterranean fever.

Cardiol J 2018 ;25(6):753-755

Suleymaniye Maternity and Children's Training and Research Hospital, Suleymaniye Maternity and Children's Training and Research Hospital, 34025 İstanbul, Turkey.

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http://dx.doi.org/10.5603/CJ.2018.0154DOI Listing
January 2018
2 Reads

Comparison of the efficacy and safety of tocilizumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: study protocol for an investigator-initiated, multicenter, randomized, double-blind, placebo-controlled trial.

Trials 2018 Dec 29;19(1):715. Epub 2018 Dec 29.

Department of Immunology and Rheumatology, Division of Advanced Preventive Medical Sciences, Nagasaki University Graduate School of Biomedical Sciences, 1-7-1 Sakamoto, Nagasaki, 852-8501, Japan.

Background: Familial Mediterranean fever (FMF) is an inherited disorder caused by a number of mutations of the Mediterranean fever (MEFV) gene, coding a protein named pyrin that acts as a major regulatory component of the inflammasome. The first-line drug for FMF treatment is colchicine, but 10% of patients with FMF do not respond well to colchicine. Although the efficacy of tocilizumab (TCZ), which is a recombinant, humanized, antihuman interleukin 6 (IL-6) receptor monoclonal antibody, has been reported to prevent FMF attacks, the effects of TCZ on individuals with colchicine-resistant or colchicine-intolerant FMF have not been evaluated in a randomized clinical trial. Read More

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http://dx.doi.org/10.1186/s13063-018-3105-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311086PMC
December 2018
2 Reads

Potential role of pyrin, the protein mutated in familial Mediterranean fever, during inflammatory cell migration.

Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):116-124. Epub 2018 Dec 12.

Department of Medical Biology, Hacettepe University, Ankara; present address: Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey.

Familial Mediterranean fever (FMF), the most common of the systemic autoinflammatory disorders, is caused by mutations in the MEFV (Mediterranean Fever) gene, which encodes the protein pyrin. Neutrophils, one of the major components during inflammation, are the main cell type that expresses pyrin. In response to an inflammatory stimulus, neutrophils migration to their main active site. Read More

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December 2018
3 Reads

Chronic non-bacterial osteomyelitis coexistent with familial Mediterranean fever.

Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):150. Epub 2018 Nov 28.

Department of Paediatric Rheumatology, Faculty of Medicine, Gazi University, Ankara, Turkey.

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November 2018
3 Reads

Concurrent chronic recurrent multifocal osteomyelitis and familial Mediterranean fever. A case report.

Clin Exp Rheumatol 2018 Nov-Dec;36(6 Suppl 115):151. Epub 2018 Dec 14.

The Hospital for Sick Children and University of Toronto, Canada.

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December 2018
2 Reads

Antineutrophil cytoplasmic antibody-positive familial Mediterranean fever and hyperthyroidism: A case report.

Medicine (Baltimore) 2018 Dec;97(51):e13805

Department of Nephrology, Rheumatology, Endocrinology and Metabolism, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan.

Rationale: Familial Mediterranean fever (FMF) is a genetic autoinflammatory disorder characterized by serositis and recurrent fever. Previous reports identified patients with antineutrophil cytoplasmic antibody (ANCA)-positive FMF, but vasculitis symptoms were not reported.

Patient Concerns: We report the case of a 44-year-old man with numbness. Read More

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http://dx.doi.org/10.1097/MD.0000000000013805DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319784PMC
December 2018
1 Read

A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations.

Intern Med 2018 Dec 18. Epub 2018 Dec 18.

Department of General Medicine, Nagasaki University Graduate School of Biomedical Sciences, Japan.

We herein report a case of a 75-year-old woman who presented with a low -grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. Because her mother also had cold-induced urticaria and her skin lesions histologically showed neutrophilic dermatitis, we suspected that she had familial cold autoinflammatory syndrome, a subtype of cryopyrin-associated periodic syndromes. Sequencing of the NLRP3 and MEFV genes revealed that she carried both the p. Read More

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http://dx.doi.org/10.2169/internalmedicine.1401-18DOI Listing
December 2018
1 Read

Vasculitis in Systemic Autoinflammatory Diseases.

Front Pediatr 2018 3;6:377. Epub 2018 Dec 3.

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

Autoinflammatory diseases (AID) are diseases of the innate immune system, characterized by recurrent episodes of localized or systemic inflammation. Vasculitis may accompany AID. The causes of the association of vasculitis with monogenic AID are still debated. Read More

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http://dx.doi.org/10.3389/fped.2018.00377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287042PMC
December 2018
15 Reads

Long-Term Effectıveness and Safety of Canakınumab ın Pedıatrıc Famılıal Medıterranean fever patıents.

Mod Rheumatol 2018 Dec 17:1-13. Epub 2018 Dec 17.

b Department of Pediatric Rheumatology , Ümraniye Training and Research Hospital , Ümraniye/İstanbul , Turkey.

Background: Little is known about the long-term efficacy and safety of canakinumab in paediatric FMF patients.

Aim: To present the single centre experience of colchicine-resistant paediatric-onset FMF patients who were treated with canakinumab by off-label use since 2012.

Methods: The hospital files of 15 children who used canakinumab were retrospectively evaluated. Read More

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https://www.tandfonline.com/doi/full/10.1080/14397595.2018.1
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http://dx.doi.org/10.1080/14397595.2018.1559488DOI Listing
December 2018
5 Reads

What's new in autoinflammation?

Authors:
Seza Ozen

Pediatr Nephrol 2018 Dec 14. Epub 2018 Dec 14.

Department of Pediatrics, Hacettepe University, Ankara, Turkey.

The pathogenesis of autoinflammatory diseases has shed light on the concept of inflammation in general and on our understanding of the role of the innate immune system. The autoinflammatory diseases have a large spectrum with varying features of inflammation. The most common autoinflammatory diseases are those associated with periodic fevers. Read More

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http://dx.doi.org/10.1007/s00467-018-4155-4DOI Listing
December 2018
4 Reads

Atypical type of familial Mediterranean fever: An underdiagnosed cause of chronic aseptic meningitis.

Neurol Clin Neurosci 2018 Nov 24;6(6):191-193. Epub 2018 Sep 24.

Department of Neurology Shin-yurigaoka General Hospital Kanagawa Japan.

We report an atypical case of familial Mediterranean fever (FMF) concomitant with chronic aseptic meningitis. The patient experienced fever, abdominal and back pain because of serositis, and headache because of aseptic meningitis for 4 weeks. Blood examinations revealed increased white blood cells and serum amyloid A level. Read More

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http://doi.wiley.com/10.1111/ncn3.12232
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http://dx.doi.org/10.1111/ncn3.12232DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282518PMC
November 2018
17 Reads

Effect of interleukin-1 antagonists on the quality of life in familial Mediterranean fever patients.

Clin Rheumatol 2018 Dec 10. Epub 2018 Dec 10.

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

Background: Familial Mediterranean fever (FMF) patients suffer from chronic complications of disease such as AA amyloidosis, chronic arthritis, and spondylitis. Reduced quality of life (QoL) is a feature of chronic diseases but it is also impaired in patients with FMF. Despite the regular use of colchicine at a maximal dose, about 10% of patients do not respond well or resistant to colchicine (crFMF). Read More

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http://dx.doi.org/10.1007/s10067-018-4384-8DOI Listing
December 2018
1 Read

Tofacitinib for familial Mediterranean fever: a new alternative therapy?

Rheumatology (Oxford) 2018 Dec 7. Epub 2018 Dec 7.

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

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http://dx.doi.org/10.1093/rheumatology/key384DOI Listing
December 2018
3 Reads

AA amyloidosis associated with morbid obesity (clinical case).

Reumatol Clin 2018 Dec 4. Epub 2018 Dec 4.

Pathological Anatomy Service, Cabueñes Hospital, Gijón, Asturias, Spain.

We present the case of a 45-year-old woman who was hospitalized due to severe macrocytic anemia and renal failure. The patient presented a morbid obesity. The immunological study showed anti-ENA anti-SSA (Ro52) positive, with negative antinuclear antibodies. Read More

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http://dx.doi.org/10.1016/j.reuma.2018.09.001DOI Listing
December 2018
2 Reads

Update on the epidemiology and disease outcome of Familial Mediterranean fever.

Authors:
Seza Özen

Best Pract Res Clin Rheumatol 2018 04 29;32(2):254-260. Epub 2018 Sep 29.

Department of Pediatrics, Hacettepe University, Ankara, Turkey. Electronic address:

Autoinflammatory diseases (AIDs) are diseases of the innate immune system, with clinical and laboratory evidence of attacks of inflammation. The more common AIDs are those associated with periodic fevers: Familial Mediterranean fever (FMF); Mevalonate Kinase Deficiency (MKD)/Hyperimmunoglobulin D Syndrome (HIDS); Cryopyrin-associated Autoinflammatory Syndrome (CAPS); and Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS). Classification criteria have been developed for all these types. Read More

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http://dx.doi.org/10.1016/j.berh.2018.09.003DOI Listing
April 2018
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IL1-blocking therapy in colchicine-resistant familial Mediterranean fever.

Eur J Rheumatol 2018 Dec 12;5(4):230-234. Epub 2018 Oct 12.

Division of Rheumatology, Department of Internal Medicine, Heidelberg University Hospital, Heidelberg, Germany.

Objective: Approximately 10%-20% of patients with familial Mediterranean fever (FMF) show an inadequate response to colchicine. In our cohort study, patients with FMF with or without amyloidosis and with an inadequate response to colchicine were treated with anakinra or canakinumab.

Methods: Clinical and laboratory parameters, Mediterranean fever (MEFV) mutations, and patient-reported outcomes were analyzed in 31 patients treated with anakinra or canakinumab. Read More

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http://dx.doi.org/10.5152/eurjrheum.2018.18036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267760PMC
December 2018
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Turk Kardiyol Dern Ars 2018 12;46(8):739-740

Department of Biochemistry, Şanlıurfa Mehmet Akif İnan Training and Research Hospital, Şanlıurfa, Turkey.

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December 2018
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Lipid disorders in Familial Mediterranean Fever patients: Is inflammation the only cause?

Turk Kardiyol Dern Ars 2018 12;46(8):739

Department of Cardiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.5543/tkda.2018.44389DOI Listing
December 2018
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MEFV gene variants in children with Henoch-Schönlein purpura and association with clinical manifestations: a single-center Mediterranean experience.

Postgrad Med 2019 Jan 12;131(1):68-72. Epub 2018 Dec 12.

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

Objectives: Henoch-Schönlein purpura (HSP) is characterized by non-thrombocytopenic palpable purpura, abdominal pain, and arthralgia/arthritis. We aimed to describe the clinical presentations of children with HSP in a single center and compare the prevalence of each manifestations between patients with MEFV variants, particularly in exon 10 and those without.

Methods: This cohort retrospectively included 144 HSP (59 females, 85 males) patients without Familial Mediterranean Fever (FMF) symptoms and followed for at least 6 months. Read More

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http://dx.doi.org/10.1080/00325481.2019.1552479DOI Listing
January 2019
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Polyarteritis nodosa in case of familial Mediterranean fever.

Turk J Pediatr 2018 ;60(3):326-330

Division of Pediatric Nephrology, Department of Pediatrics, Marmara University Faculty of Medicine, İstanbul, Turkey.

Gökçe İ, Altuntaş Ü, Filinte D, Alpay H. Polyarteritis nodosa in case of familial Mediterranean fever. Turk J Pediatr 2018; 60: 326-330. Read More

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http://dx.doi.org/10.24953/turkjped.2018.03.016DOI Listing
January 2018
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Exon 2: Is it the good police in familial mediterranean fever?

Eur J Rheumatol 2018 Oct 12. Epub 2018 Oct 12.

Division of Rheumatology, Department of Internal Medicine, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Objective: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Most of the identified disease-causing mutations are located on exon 10. As the number of studies about the effect of the exonal location of the mutation and its phenotypic expression is limited, we aimed to investigate whether the exonic location of the Mediterranean fever (MEFV) mutation has an effect on the clinical manifestation in patients with FMF. Read More

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http://dx.doi.org/10.5152/eurjrheum.2018.18115DOI Listing
October 2018
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Association of pyrin mutations and autoinflammation with complex phenotype hidradenitis suppurativa: a case-control study.

Br J Dermatol 2018 Nov 29. Epub 2018 Nov 29.

Department of Dermatology and Venereology, Ankara University, Ankara, Turkey.

Background: Hidradenitis suppurativa (HS) is a rare, debilitating neutrophilic dermatosis characterized by chronic inflammation of hair follicles. Many inflammatory conditions may accompany HS.

Objectives: To investigate the association of variants of the MEFV gene with a complex HS phenotype. Read More

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http://dx.doi.org/10.1111/bjd.17466DOI Listing
November 2018
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Treatment options for periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome in children and adults: a narrative review.

Clin Rheumatol 2019 Jan 28;38(1):11-17. Epub 2018 Nov 28.

Research Center of Systemic Autoinflammatory Diseases and Behçet's Disease and Rheumatology-Ophthalmology Collaborative Uveitis Center, Department of Medical Sciences, Surgery and Neurosciences, University of Siena, Siena, Italy.

Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most frequent non-hereditary autoinflammatory disorder in childhood: Its onset is usually observed before 5 years, though reports regarding adulthood are increasing. The pathogenesis of the syndrome is not completely understood, but a multifactorial origin, probably based on a polygenic pattern of susceptibility, is the most probable rational pathogenetic hypothesis. Treatment of PFAPA syndrome relies on the administration of low-dose corticosteroids, which promptly abort flares but cannot prevent subsequent disease episodes over time. Read More

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http://link.springer.com/10.1007/s10067-018-4361-2
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http://dx.doi.org/10.1007/s10067-018-4361-2DOI Listing
January 2019
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