Research: The Latest

Research: The Latest2019-09-06T20:28:21+00:00
  • Thyroid disorders in familial Mediterranean fever: think about AA amyloidosis!

    No abstract

  • Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives

    Systemic autoinflammatory diseases are a heterogeneous family of disorders characterized by a dysregulation of the innate immune system, in which sterile inflammation primarily develops through antigen-independent hyperactivation of immune pathways. In most cases, they have a strong genetic background, with mutations in single genes involved in inflammation. Therefore, they can derive from different pathogenic mechanisms at any level, such as dysregulated inflammasome-mediated production of...

  • COVID-19 in patients with gout on colchicine

    Current data demonstrated that severe cases of coronavirus-disease-19 (COVID-19) require treatment with antiviral therapy, dexamethasone, supportive care, as well as some anti-rheumatic drugs, among them, cytokine inhibitors and colchicine. Colchicine is an anti-inflammatory drug that is being used in rheumatology for many years to treat mostly gout, calcium pyrophosphate deposition disease, and Familial Mediterranean Fever. Here, we present for the first time, two patients suffering from gout...

  • The impact of COVID-19 on familial Mediterranean fever: a nationwide study

    The study aimed to evaluate the impact of the coronavirus disease 2019 (COVID-19) in patients with familial Mediterranean fever (FMF) and to assess the relationships between FMF characteristics and severe COVID-19 outcomes such as hospitalization. The study was planned within a national network of 21 different centers. Demographics, FMF-related clinical and genetic characteristics, and COVID-19 outcomes were obtained. A total of 822 patients with FMF (mean age of 36 years) were included in the...

  • Inborn error of immunity as the cause of recurrent pericarditis

    Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by a pyrin dysfunction, leading to uncontrolled interleukin-1 production that triggers the attacks. Here we report a case of a 36-year-old female patient repeatedly admitted to the cardiology ward with recurrent episodes of pericarditis, with intervals of 1 and 2 months between the episodes. During the attacks, chest pain and fever were the only symptoms. Following the administration of steroids and non-steroidal...

  • Gastrointestinal involvement in a patient with familial Mediterranean fever mimicking Crohn's disease: a case report

    Familial Mediterranean fever (FMF) in gastrointestinal involvement has been considered rare, but resent reports suggest that FMF causes enterocolitis which is similar endoscopic findings to inflammatory bowel disease. The clinical characteristics and endoscopic findings of FMF with enterocolitis remain unclear. Here, we report a case of an FMF patient who had enterocolitis with stricture of the terminal ileum whose endoscopic and clinical features mimicked Crohn's disease. A 23-year-old man who...

  • The cumulative effects of MEFV gene polymorphisms and mutations in patients with inflammatory bowel diseases

    CONCLUSIONS: Mediterranean fever gene variant was more frequently found in cases with ulcerative colitis compared to the controls.

  • The efficacy of interleukin-1 antagonist drugs in combination with colchicine in patients with FMF-AA with colchicine resistance after kidney transplantation: A study with histopathologic evidence

    CONCLUSION: IL-1 antagonist drug and colchicine combination almost completely prevented acute FMF attacks in kidney transplant patients with colchicine resistance. However, amyloid accumulation did not cease during IL-1 antagonist drug treatment.

  • Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

    Familial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is...

  • Neutrophil-to-lymphocyte ratios in pregnant women with familial mediterranean fever

    CONCLUSIONS: The NLRs are a haematological parameter that can be used to predict subclinical inflammation and the effects of ongoing subclinical inflammation on the pregnancy outcomes in women with FMF (Tab. 4, Ref. 39).

  • A SARS-CoV-2 Spike Binding DNA Aptamer that Inhibits Pseudovirus Infection by an RBD-Independent Mechanism*

    The receptor binding domain (RBD) of the spike glycoprotein of the coronavirus SARS-CoV-2 (CoV2-S) binds to the human angiotensin-converting enzyme 2 (ACE2) representing the initial contact point for leveraging the infection cascade. We used an automated selection process and identified an aptamer that specifically interacts with CoV2-S. The aptamer does not bind to the RBD of CoV2-S and does not block the interaction of CoV2-S with ACE2. Nevertheless, infection studies revealed potent and...

  • A rare case of an NLRP12-associated autoinflammatory disease

    Pathogenic variants in nucleotide-binding oligomerization-like receptor protein 12 (NLRP12) have been recently suggested as possible causes of autoinflammatory syndromes and should be considered for the differential diagnosis in the patients presenting with symptoms of autoinflammatory diseases. Here we report a very rare case of NLRP12-associated autoinflammatory disease patient who initially presented with polyarthritis and was diagnosed as FMF. Later, the genetic analysis excluded many...

  • A new MMP-mediated prodomain cleavage mechanism to activate bone morphogenetic proteins from the extracellular matrix

    Since their discovery as pluripotent cytokines extractable from bone matrix, it has been speculated how bone morphogenetic proteins (BMPs) become released and activated from the extracellular matrix (ECM). In contrast to TGF-βs, most investigated BMPs are secreted as bioactive prodomain (PD)-growth factor (GF) complexes (CPLXs). Recently, we demonstrated that PD-dependent targeting of BMP-7 CPLXs to the extracellular fibrillin microfibril (FMF) components fibrillin-1 and -2 represents a BMP...

  • Evaluation of the international severity score for FMF (ISSF) scores in Turkish children diagnosed with FMF: a single-center experience

    CONCLUSIONS: ISSF appears as a suitable and effective tool for the physicians in the follow-up of the disease severity in pediatric FMF patients. Key Points • Our article is the first study to evaluate ISSF performance in the pediatric population. • International severity score for FMF (ISSF) appears as a suitable and effective tool for the physicians in the follow-up of the disease severity in pediatric FMF patients. • We think that the addition of pathogenic mutations and inheritance model to...

  • PCR-Free Methodology for Detection of Single-Nucleotide Polymorphism with a Cationic Polythiophene Reporter

    This study presents a nonamplification-based nucleic acid assay for the detection of single-nucleotide polymorphism (SNP) associated with familial Mediterranean fever (FMF) besides polymerase chain reaction (PCR)-based methodologies. The major objective is to show the potential of the proposed assay for rapid screening of FMF in a Mediterranean region of 400 million population. The assay relies on binding difference of specially designed wild and mutant primers to the target genomic DNA,...

  • COVID-19 outcomes in patients with familial Mediterranean fever: a retrospective cohort study

    Aim of this study is to investigate the course of coronavirus disease 2019 (COVID-19), in our cohort of familial Mediterranean fever (FMF) patients in means of mortality, admission to hospital and/or intensive care unit and length of hospital stay.A retrospective cohort was formed from patients who have previously been followed with a diagnosis of FMF. Patients of this cohort were retrospectively evaluated for a positive severe acute respiratory syndrome-coronavirus 2 (SARS-CoV 2) polymerized...

  • COVID-19 in patients with familial Mediterranean fever treated with colchicine: case based review

    Coronavirus disease 2019 (COVID-19) refers to the clinical picture of an important and severe infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Considering the current knowledge on the pathophysiology and clinical manifestations of COVID-19, it is safe to state that both COVID-19 and inflammatory rheumatic disorders cause a cytokine storm and merit treatment with anti-rheumatic drugs. Three patients, who were on regular follow-up due to the diagnosis of...

  • The Use of Colchicine in Cardiovascular Diseases: A Systematic Review

    The medicinal properties of colchicine have been recognized for centuries. Although previously used for gout and familial Mediterranean fever, its immune-modulating, anti-inflammatory, and antifibrotic effects are increasingly recognized as beneficial in the treatment of cardiovascular disorders. In this systematic review, we summarize the current evidence on colchicine's effectiveness in 1) pericarditis, 2) coronary artery disease, and 3) atrial fibrillation. We also discuss the safety,...

  • Association between familial Mediterranean fever and multiple sclerosis: A case series from the JIR cohort and systematic literature review

    CONCLUSION: FMF and MS features were comparable to those of patients with unrelated diseases; and MEFV mutation carriage was not positively correlated with MS. However; MS prevalence in FMF patients was higher than was expected in a healthy population. To a lesser extent; FMF prevalence in MS patients was higher than expected in a healthy population and the difference might not be significant. These data suggest that FMF could be associated with MS; and further studies are needed to investigate...

  • IL-1 Inhibitors in the Treatment of Monogenic Periodic Fever Syndromes: From the Past to the Future Perspectives

    Autoinflammatory diseases (AIDs) represent a rare and heterogeneous group of disorders characterized by recurrent episodes of inflammation and a broad range of clinical manifestations. The most common symptoms involve recurrent fevers, musculoskeletal symptoms, and serositis; however, AIDs can also lead to life-threatening complications, such as macrophage activation syndrome (MAS) and systemic AA amyloidosis. Typical monogenic periodic fever syndromes include cryopyrin-associated periodic fever...