4,078 results match your criteria Mediterranean Fever Familial


Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement.

Curr Opin Rheumatol 2018 Jun 16. Epub 2018 Jun 16.

Division of Rheumatology, Departments of Pediatrics and Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

Purpose Of Review: This review aims at summarizing the current knowledge of A20 haploinsufficiency and other paediatric inflammatory disorders with mucosal involvement.

Recent Findings: A20 haploinsufficiency is a newly described autoinflammatory disease caused by loss-of-function mutations in TNFAIP3 that result in the activation of the nuclear factor (NF)-kB pathway. Patients may present with dominantly inherited, early-onset systemic inflammation and a Behçet-like disease, or a variety of autoinflammatory and autoimmune features. Read More

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Transdermal rotigotine patch in Parkinson's disease with a history of intestinal operation.

BMJ Case Rep 2018 Jun 15;2018. Epub 2018 Jun 15.

Department of Neurology, Juntendo University Faculty of Medicine, Tokyo, Japan.

A 42-year-old Japanese man with a history of small intestine resection and familial Mediterranean fever was referred to our hospital for a second opinion on parkinsonism. At the age of 35, the patient attended a hospital due to impaired left-hand movement and resting tremor. He was previously diagnosed with multiple system atrophy based on the lack of effectiveness of levodopa treatment. Read More

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June 2018
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Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis.

Iran J Kidney Dis 2018 05;12(3):150-155

Department of Medical Genetic, Faculty of Medicine, Hitit University, Corum, Turkey.

Introduction: The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders.  The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. Read More

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May 2018
3 Reads

Increased Frequency of Genes in Patients with Epigastric Pain Syndrome.

Balkan J Med Genet 2017 Dec 29;20(2):51-58. Epub 2017 Dec 29.

Department of Gastroenterology, Cumhuriyet University, Faculty of Medicine, Sivas, Turkey.

Atypical clinical forms of familial Mediterranean fever (FMF) can be misdiagnosed as therapy-resistant epigastric pain syndrome (EPS) for they share many of the same clinical features, such as abdominal pain. Thus, we aimed to determined the frequency of FMF in patients who were followed with a diagnosis of therapy-resistant EPS. Seventy-five patients with therapy-resistant EPS and 20 controls were involved in the study. Read More

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December 2017
1 Read

Blood group 'A' may have a possible modifier effect on familial Mediterranean fever and blood group '0' may be associated with colchicine resistance.

Biomark Med 2018 Jun 6. Epub 2018 Jun 6.

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

Aim/purpose: Our aim was to investigate the association between blood groups and colchicine resistance in familial Mediterranean fever (FMF) patients.

Methods: This is a single-center, cross-sectional study. Between January and December 2016, 385 FMF patients were assessed by the Adult and Pediatric Rheumatology outpatient clinics and 297 patients had blood groups (ABO and Rh) results. Read More

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June 2018
2 Reads

[Periodic fever syndromes].

Ugeskr Laeger 2018 May;180(22)

Periodic fever syndromes (PFS) are characterised by recurrent fever and excessive systemic inflammation. These rare and hereditary syndromes include familial Mediterranean fever, tumour necrosis factor receptor-1 associated periodic syndrome, mevalonate kinase deficiency and cryopyrin-associated periodic syndrome. Each PFS has distinct clinical and genetic features. Read More

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May 2018
2 Reads

A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade.

Case Rep Rheumatol 2018 1;2018:9670801. Epub 2018 Apr 1.

Human Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA.

Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the gene encoding pyrin, a negative regulator of interleukin-1. The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation. While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals. Read More

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April 2018
2 Reads

GSDMD is critical for autoinflammatory pathology in a mouse model of Familial Mediterranean Fever.

J Exp Med 2018 Jun 23;215(6):1519-1529. Epub 2018 May 23.

Center for Inflammation Research, Vlaams Instituut voor Biotechnologie, Ghent, Belgium

Pyroptosis is an inflammasome-induced lytic cell death mode, the physiological role of which in chronic inflammatory diseases is unknown. Familial Mediterranean Fever (FMF) is the most common monogenic autoinflammatory disease worldwide, affecting an estimated 150,000 patients. The disease is caused by missense mutations in that activate the Pyrin inflammasome, but the pathophysiologic mechanisms driving autoinflammation in FMF are incompletely understood. Read More

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June 2018
2 Reads

Analysis of microRNAs in familial Mediterranean fever.

PLoS One 2018 22;13(5):e0197829. Epub 2018 May 22.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Objectives: Although Familial Mediterranean fever (FMF) is categorized as autosomal recessive, frequent exceptions to this model exist and therefore we aimed to search epigenetic modifications in this disease.

Methods: Ten M694V homozygous FMF patients (the most severe phenotype) were recruited for this study. Patients with inflammatory flare were excluded. Read More

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May 2018
1 Read

Familial Mediterranean Fever Mutations in a Patient with Periodic Episodes of Systemic Pain Deriving from Cancer Bone Metastases.

Intern Med 2018 May 18. Epub 2018 May 18.

Department of Hematology and Oncology, Kyoto University Hospital, Japan.

Familial Mediterranean fever (FMF), the most common autoinflammatory disorder, is characterized by recurrent febrile attacks and polyserositis. FMF is caused by mutations in MEFV, which encodes pyrin. In this report, we present an atypical FMF case with E148Q/L110P mutations in MEFV. Read More

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May 2018
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Profile of renal AA amyloidosis in older and younger individuals: a single-centre experience.

Amyloid 2018 May 18:1-5. Epub 2018 May 18.

a Department of Nephrology , Ankara University School of Medicine , Ankara , Turkey.

Objective: In epidemiological studies of amyloid A (AA) amyloidosis from Turkey, the most frequently cause was familial Mediterranean fever (FMF) and it occurs generally in young age population. However, there are no sufficient data regarding aetiology, clinical presentation and prognosis of renal AA amyloidosis in advanced age patients. In this study, we aimed to investigate demographic, clinical presentation, aetiology and outcomes of adults aged 60 years or older patients with biopsy-proven renal AA amyloidosis. Read More

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May 2018
3 Reads

Periodic fever syndromes.

Authors:
Helen J Lachmann

Best Pract Res Clin Rheumatol 2017 Aug 11;31(4):596-609. Epub 2018 Jan 11.

National Amyloidosis Centre and Centre for Acute Phase Proteins, Division of Medicine, University College London, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, UK. Electronic address:

Periodic fever syndromes are autoinflammatory diseases. The majority present in infancy or childhood and are characterised by recurrent episodes of fever and systemic inflammation that occur in the absence of autoantibody production or identifiable infection. The best recognised disorders include CAPS, FMF, TRAPS and MKD. Read More

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August 2017
1 Read

Long-term familial Mediterranean fever remission on successful hepatitis C virus treatment in a patient not responding to colchicine: a case report.

J Med Case Rep 2018 May 18;12(1):130. Epub 2018 May 18.

Department of Gastroenterology, "Armenia" Republican Medical Center, Yerevan, Armenia.

Background: Familial Mediterranean fever is an autosomal recessive disorder characterized by periodic febrile attacks of aseptic serositis and/or arthritis. The main treatment is colchicine which prevents attacks in the majority of patients except for a group of colchicine-resistant cases. Chronic hepatitis C is a viral infection causing chronic inflammation of liver tissue (hepatitis) which ultimately progresses to fibrosis and liver cirrhosis with a high chance of hepatocellular carcinoma. Read More

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May 2018
1 Read

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.

N Engl J Med 2018 05;378(20):1908-1919

From the Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome (F.D.B.), Clinica Pediatrica e Reumatologia, Unità Operativa Semplice Dipartimentale di Malattie Autoinfiammatorie e Immunodeficienze, IRCCS, Istituto G. Gaslini, Genoa (M.G.), the Pediatric Clinic, University of Brescia and Spedali Civili, Brescia (M.C.), and the Amyloidosis Research and Treatment Center, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia (L.O.) - all in Italy; the Division of Pediatric Rheumatology, Hospital Sant Joan de Déu, Universitat de Barcelona (J.A.), and the Internal Medicine Department, Autoimmune and Systemic Diseases Unit, Hospital Vall d'Hebron (S.B.-R.), Barcelona, and the Pediatric Rheumatology Unit, Hospital Universitario y Politécnico La Fe, Valencia (I.C.P.) - all in Spain; the Rheumatology Unit, Hadassah-Hebrew University Hospital (E.B.-C.), and the Pediatric Rheumatology Unit, Shaare Zedek Medical Center (P.J.H.), Jerusalem, and Heller Institute of Medical Research and Medicine Faculty, Sheba Medical Center, Tel-Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv (A.L.) - all in Israel; the Division of Pediatrics, University Medical Center Utrecht, Utrecht (J.F.), and the Radboud Expertise Center for Immunodeficiency and Autoinflammation, Department of Internal Medicine, Radboud University Medical Center, Nijmegen (A. Simon) - both in the Netherlands; the Departments of Pediatrics and Medicine, University of California at San Diego and Rady Children's Hospital San Diego, San Diego (H.M.H.); the Department of Pediatric Rheumatology, Centre de Référence des Maladies Auto-inflammatoires et de l'Amylose Inflammatoire, Centre Hospitalier Universitaire (CHU) de Bicêtre, Assistance Publique-Hopitaux de Paris (APHP), Université de Paris Sud (I.K.-P.), and Paris-Descartes University, Imagine Institute, Unité d'Immuno-Hématologie et Rhumatologie Pédiatrique, Hôpital Necker-Enfants Malades, APHP (P.Q.), Paris; the National Amyloidosis Centre, University College London Division of Medicine, Royal Free Campus (H.J.L.), and University College London, Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital for Children NHS Foundation Trust (P.B.), London; the Department of Pediatrics, Hacettepe University, Ankara (S.O.), and the Department of Pediatric Rheumatology, Cerrahpasa Medical School (O.K.), and Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology (A.G.), Istanbul University, Istanbul - all in Turkey; the Department of Pediatrics, Division of Pediatric Rheumatology, Cleveland Clinic, Cleveland (A.Z.); the Department of Infectious Diseases and General Internal Medicine, CHU Sart-Tilman, University of Liège, Liege (M.M.), and the Department of Infectious Diseases and Immunity, Jessa Hospital, University of Hasselt, Hasselt (J.V.H.) - both in Belgium; the Department of Clinical Immunology, Center for Pediatric Hematology, Oncology, and Immunology, Moscow (A. Shcherbina); Pediatric Rheumatology of Western Switzerland, University of Lausanne, Lausanne, (M.H.), and Novartis, Basel (K.L., A. Speziale, G.J.) - both in Switzerland; the Department of Pediatrics, Yokohama City University Graduate School of Medicine, Yokohama, Japan (R.H.); and the Department of Pediatrics, Semmelweis Egyetem, Budapest, Hungary (T.C.).

Background: Familial Mediterranean fever, mevalonate kinase deficiency (also known as the hyperimmunoglobulinemia D syndrome), and the tumor necrosis factor receptor-associated periodic syndrome (TRAPS) are monogenic autoinflammatory diseases characterized by recurrent fever flares.

Methods: We randomly assigned patients with genetically confirmed colchicine-resistant familial Mediterranean fever, mevalonate kinase deficiency, or TRAPS at the time of a flare to receive 150 mg of canakinumab subcutaneously or placebo every 4 weeks. Patients who did not have a resolution of their flare received an add-on injection of 150 mg of canakinumab. Read More

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May 2018
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Colchicine, a microtubule-disassembling drug, in the therapy of cardiovascular diseases.

Cell Biol Int 2018 May 15. Epub 2018 May 15.

Department of Anatomy and Cell Biology, Medical University, BG-9002 Varna, Bulgaria.

Colchicum autumnale, from which colchicine has been isolated more than 100 years ago, has been used as a treatment for pain and swelling for thousands of years. It is one of the few drugs known from that time period whose use has survived to modernity. Over the past decades, advances in the knowledge of (i) cytoskeletal microtubules (МТ), and (ii) anti-inflammatory and anti-fibrotic effects of colchicine, a classical MT-disassembling (tubulin-targeting) agent, have led to potential new uses for this very old drug extended beyond acute gouty arthritis and familial Mediterranean fever. Read More

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May 2018
2 Reads

The evaluation of salivary oxidative stress in patients with familial mediterranean fever and chronic periodontitis.

J Periodontol 2018 May 15. Epub 2018 May 15.

Department of Biostatistics and Medical Informatics, Faculty of Medicine, University of Süleyman Demirel, Isparta, Turkey.

Background: Familial Mediterranean fever (FMF) is an inherent autoinflammatory disease and have a high prevalence in Mediterranean countries. The aim of this study was to evaluate salivary levels of oxidative stress parameters in patients with FMF and chronic periodontitis.

Methods: The study population consists of 81 patients with FMF and 85 systemically healthy controls. Read More

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May 2018
1 Read

MEFV gene mutations and clinical course in pediatric patients with Henoch-Schönlein purpura.

Arch Argent Pediatr 2018 06;116(3):e385-e391

University Of Health Sciences,Bagcılar Training and Research, Hospital, Istanbul, Turkey.

Objective: To determine the frequency of the MEFV gene mutations in pediatric patients diagnosed with HSP and to assess the effect of the MEFV gene mutations on their prognosis. Material and Methods. Ccross-sectional study; pediatric patients between 2-11 years diagnosed with HSP were included. Read More

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June 2018
1 Read

Autoinflammatory diseases as a cause of acute abdominal pain in the emergency department.

Clin Exp Rheumatol 2018 Jan-Feb;36 Suppl 110(1):39-43. Epub 2018 May 3.

Emergency Department, ASST-Fatebenefratelli Sacco University Hospital, Milan, Italy.

Autoinflammatory diseases (AIDs) usually present with acute abdominal pain and fever, both of which are also the main causes of referral in the emergency department. As some patients with acute abdominal pain may be discharged from the emergency department without a definitive diagnosis, it is not surprising that, due to their rarity, most cases of AID remain undiagnosed or are misdiagnosed as acute appendicitis. Indeed, the diagnosis of familial Mediterranean fever and autoinflammatory syndromes requires a high index of suspicion and careful assessment of clinical history. Read More

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May 2018
2 Reads

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Authors:
Evren Gumus

J Clin Med 2018 May 7;7(5). Epub 2018 May 7.

Department of Medical Genetics, Faculty of Medicine, University of Harran, 63000 Sanliurfa, Turkey.

Background: Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. Read More

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May 2018
1 Read

Case report: acute hydrops and spontaneous corneal perforation in a patient with keratoconus treated with colchicine for familial Mediterranean fever.

Int Ophthalmol 2018 Apr 30. Epub 2018 Apr 30.

Department of Ophthalmology, Kaplan Medical Center, Rehovot, Israel.

Purpose: To report a rare case of spontaneous corneal perforation after hydrops in keratoconus patients who suffer from familial Mediterranean fever and was treated systemically with Colchicine.

Methods: Case report.

Results: We report a case of a 30-year-old male with keratoconus and familial Mediterranean fever treated with colchicine, presented with acute hydrops in his left eye, which progressed to a spontaneous corneal perforation. Read More

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April 2018
1 Read

Clinical experience with multigene carrier panels in the reproductive setting.

Prenat Diagn 2018 Apr 23. Epub 2018 Apr 23.

University of Miami Miller School of Medicine, Miami, FL, USA.

Objectives: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with 3 commercial laboratory panels varying in size from 3 to 218 disorders. Read More

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April 2018
2 Reads

Transethosomal gels as carriers for the transdermal delivery of colchicine: statistical optimization, characterization, and ex vivo evaluation.

Drug Des Devel Ther 2018 9;12:795-813. Epub 2018 Apr 9.

School of Pharmaceutical Sciences, Universiti Sains Malaysia, Minden, Penang, Malaysia.

Introduction: Colchicine is used for the treatment of gout, pseudo-gout, familial Mediterranean fever, and many other illnesses. Its oral administration is associated with poor bioavailability and severe gastrointestinal side effects. The drug is also known to have a low therapeutic index. Read More

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April 2018
1 Read

Lipid profile and atherogenic indices and their association with platelet indices in familial Mediterranean fever.

Turk Kardiyol Dern Ars 2018 04;46(3):184-190

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

Objective: The aim of this study was to investigate lipid profiles and atherogenic indices and their association with platelet indices in Familial Mediterranean Fever (FMF) patients.

Methods: A total of 63 FMF patients and 51 healthy individuals were included in this retrospective study. Inflammatory marker values (erythrocyte sedimentation rate [ESR], C-reactive protein [CRP] and fibrinogen), platelet indices (mean platelet volume, plateletcrit value, platelet large cell ratio, and platelet distribution width), lipid profiles (levels of total cholesterol, triglycerides, high-density lipoprotein [HDL] cholesterol, and low-density lipoprotein cholesterol) were recorded. Read More

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April 2018
4 Reads

Canakinumab as monotherapy for treatment of familial Mediterranean fever - first report in Central and Eastern Europe region.

Bratisl Lek Listy 2018 ;119(4):198-200

Autoinflammatory disorders (AID) are characterized by spontaneous attacks of acute inflammation with a broad spectrum of clinical symptoms. Ongoing inflammation and reoccurrence of acute flares can lead to the development of amyloidosis. One group of AID is represented by monogenic periodic fever syndromes while familial Mediterranean fever (FMF) is the most common form of AID from this group. Read More

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January 2018
4 Reads

A case of adult onset Still's disease with mutations of the MEFV gene who is partially responsive to colchicine.

Medicine (Baltimore) 2018 Apr;97(15):e0333

Division of Allergy, Immunology and Rheumatology, Taichung Veterans General Hospital, Taichung, R.O.C.

Rationale: Familial Mediterranean fever (FMF) and adult onset Still's disease (AOSD) have overlapping features, and are categorized as being on the spectrum of autoinflammatory diseases (AIDs). FMF is more prevalent in the Mediterranean region but rarely, described in the Chinese population.

Patient Concerns: We present an interesting case of a Han Chinese AOSD patient with episodic fever, wheals, and polyarthritis for 2 years. Read More

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April 2018
1 Read

Management of idiopathic recurrent pericarditis in adults and in children: a role for IL-1 receptor antagonism.

Intern Emerg Med 2018 06 9;13(4):475-489. Epub 2018 Apr 9.

Department of Experimental and Clinical Medicine, University of Firenze, Largo Brambilla 3, 50134, Firenze, Italy.

Recurrent pericarditis is one of the most frequent pericardial diseases, affecting up to 30% of the patients who have experienced acute pericarditis. While the diagnosis of acute pericarditis is sometime straight forward, its etiology and therapeutic management are still a challenge for physicians. In developed countries, the idiopathic form is the most frequent, and the search for an infectious etiology is almost invariably negative. Read More

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June 2018
7 Reads

Increased circulating endothelial microparticles in children with FMF.

Biomarkers 2018 Apr 16:1-5. Epub 2018 Apr 16.

b Department of Pediatric Nephrology , Erciyes University Faculty of Medicine , Kayseri , Turkey.

Objective: Endothelial microparticles (EMPs) are considered as markers of endothelial dysfunction. In this study, we aimed to examine whether there is endothelial dysfunction in children with familial Mediterranean fever (FMF), hypothesizing that endothelial dysfunction would be present especially with acute-phase response in the active period of the disease.

Methods: This cross-sectional study included 65 FMF patients (41 attack free, 24 attack period) and 35 healthy controls. Read More

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April 2018
3 Reads

Sacroiliitis in Children With Familial Mediterranean Fever.

J Clin Rheumatol 2018 Mar 29. Epub 2018 Mar 29.

Background/objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease, characterized by recurrent, self-limited attacks of fever with serositis. Various diseases were reported to be associated with FMF. The aim of this study was to investigate the frequency and characteristics of sacroiliitis in children with FMF. Read More

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March 2018
5 Reads

Efficacy and safety of interleukin-1 inhibitors in familial Mediterranean fever patients complicated with amyloidosis.

Mod Rheumatol 2018 Apr 27:1-4. Epub 2018 Apr 27.

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

Background: Colchicine is the mainstay of the treatment of familial Mediterranean fever (FMF). However, 10% of FMF patients do not respond well to colchicine. Efficacy of interleukin (IL)-1 inhibitors in reducing attacks have been demonstrated in colchicine-resistant FMF (crFMF) patients recently. Read More

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April 2018
6 Reads

Complex formation dynamics of native and mutated pyrin's B30.2 domain with caspase-1.

Proteins 2018 Jun 1;86(6):676-683. Epub 2018 Apr 1.

Russian-Armenian University, Yerevan, 0051, Armenia.

Pyrin protein is the product of the MEFV gene, mutations in which cause manifestation of familial Mediterranean fever (FMF). Functions of pyrin are not completely clear. The secondary structure of the pyrin is represented with four domains and two motifs. Read More

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June 2018
1 Read

Familial Mediterranean fever: new insights into cancer immunoprevention? Comment on the article by Brenner et al.

Arthritis Rheumatol 2018 Mar 23. Epub 2018 Mar 23.

Hacettepe University School of Medicine, Ankara, Turkey.

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March 2018
6 Reads

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

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March 2018
8 Reads

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

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March 2018
1 Read

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

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March 2018
5 Reads

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

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March 2018
7 Reads

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

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February 2018
1 Read

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

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March 2018
4 Reads

[Familial Mediterranean fever].

Rev Med Interne 2018 Apr 8;39(4):240-255. 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

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April 2018
7 Reads

Serum, salivary, and tissue levels of plasminogen in familial Mediterranean fever, amyloidosis, and chronic periodontitis.

J Periodontol 2018 Apr 27;89(4):456-465. Epub 2018 Feb 27.

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

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April 2018
3 Reads

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

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January 2018
2 Reads

[Clinical overview of auto-inflammatory diseases].

Rev Med Interne 2018 Apr 28;39(4):214-232. 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

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April 2018
2 Reads

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

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March 2018
2 Reads

Polyarteritis nodosa revisited: a review of historical approaches, subphenotypes and a research agenda.

Clin Exp Rheumatol 2018 Mar-Apr;36 Suppl 111(2):135-142. 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

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February 2018
3 Reads

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

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February 2018
6 Reads

Canakinumab treatment in children with familial Mediterranean fever: report from a single center.

Rheumatol Int 2018 May 15;38(5):879-885. 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

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May 2018
3 Reads

Canakinumab treatment in renal transplant recipients with familial Mediterranean fever.

J Nephrol 2018 Jun 14;31(3):453-455. 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

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June 2018
4 Reads

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

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February 2018
4 Reads

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

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February 2018
3 Reads

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

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January 2018
3 Reads

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

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February 2018
5 Reads